SoDCoD
a comprehensive database of Cu/Zn Superoxide Dismutase Conformational Diversity caused by ALS-linked gene mutations and other perturbations
Cu/Zn Superoxide Dismutase (SOD1) is one of the causative genes for amyotrophic lateral sclerosis (ALS), and over 180 distinct mutations accompanied by amino acid changes have been reported in ALS patients. We present SoDCoD, a database collecting our comprehensive biochemical analyses for the structural changes of SOD1 caused by ALS-linked gene mutations and other perturbations.
We previously carried out a comprehensive analysis of all the SOD1 mutants on the following two points:
- Interaction with Derlin-1(CT4) We reported that most SOD1 mutants bind to the carboxyl-terminal region of Derlin-1 [termed Derlin-1(CT4)], a component of the endoplasmic reticulum-associated degradation (ERAD) machinery, and this interaction triggers ER stress-dependent motor neuron death.
- Conformatinal alterlation We reported that most SOD1 mutants have a constitutively exposed Derlin-1-binding region (DBR) that is occluded in the wild-type protein. We developed monoclonal antibodies, MS785 and MS27, which recognizes DBR-exposed SOD1. A systematic immunoprecitipation analysis revealed that most SOD1 mutants expose the DBR.
In addition, we found that zinc deficiency induces a conformational alteration in wild-type SOD1. We performed an siRNA screening to identify genes that were involved in the proteostasis of conformationally altered wild-type SOD1. We catalogued candidate genes in the screen on this database.
This database provides indispensable information for significant progress in medical research, diagnosis, and treatment of ALS targeting conformational alteration in SOD1.
This version 1.0 contains information on the properties of 188 types of SOD1 mutants, including structural changes and binding to Derlin-1, as well as a set of genes that contribute to the proteostasis of mutant-like wild-type SOD1.
How to Use
- Obtain information on the structural properties of SOD1 mutants from a schematic diagram of SOD1 mutations
- Obtain information on the structural properties of SOD1 mutants from a list of mutations
- Obtain information on genes involved in the proteostasis of mutant-like wild-type SOD1
All raw data are deposited on GitHub. GitHub Repository
References
-
Fujisawa T, Homma K, Yamaguchi N, Kadowaki H, Tsuburaya N, Naguro I, Matsuzawa A, Takeda K, Takahashi Y, Goto J, Tsuji S, Nishitoh H, Ichijo H
A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants
Ann. Neurol., 72, 739-749 (2012)
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Fujisawa T, Yamaguchi N, Kadowaki H, Tsukamoto Y, Tsuburaya N, Tsubota A, Takahashi H, Naguro I, Takahashi Y, Goto J, Tsuji S, Nishitoh H, Homma K, Ichijo H
A systematic immunoprecipitation approach reinforces the concept of common conformational alterations in amyotrophic lateral sclerosis-linked SOD1 mutants
Neurobiol. Dis., 82, 478-486 (2015)
-
Homma K, Takahashi H, Tsuburaya N, Naguro I, Fujisawa T and Ichijo H
Genome-wide siRNA screening reveals that DCAF4-mediated ubiquitination of optineurin stimulates autophagic degradation of Cu/Zn superoxide dismutase
J. Biol. Chem., 295, 3148-3158 (2020)
Contributors
Takao Fujisawa -Website development-
Yurika Momozawa -Website development-
Hideki Nishitoh -Graphic design on the left side in the home tab-
Questions and Comments
Please contact Takao Fujisawa (fujisawa@mol.f.u-tokyo.ac.jp)
SOD1 mutation
(ordered by sequence position)
| Mutation | Recognized by MS785 | Recognized by MS27 | Recognized by MS785 and MS27 (mix) | Derlin-1(CT4) interaction | WB band intensity (mean ± SD, n=3) | copper content (atoms per dimer) | zinc content (atoms per dimer) | reference (PMID) | enzyme activity (%, compared to WT) | reference (PMID) | structure (PDB ID) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| K3E | Yes | Yes | Yes | Yes | 1.11 ± 0.14 | – | – | – | – | – | – |
| K3E | Yes | Yes | Yes | Yes | 1.11 ± 0.14 | – | – | – | – | – | – |
| A4S | Yes | Yes | Yes | Yes | 1.11 ± 0.10 | – | – | – | – | – | – |
| A4P | N.D. | N.D. | Yes | Yes | 1.25 ± 0.14 | – | – | – | – | – | – |
| A4F | N.D. | N.D. | Yes | Yes | 0.09 ± 0.00 | – | – | – | – | – | – |
| A4T | Yes | Yes | Yes | Yes | 1.11 ± 0.14 | – | – | – | – | – | – |
| A4V | Yes | Yes | Yes | Yes | 0.95 ± 0.08 | 0.4 | 2.4 | 19325915 | 57.8 | 8245985 | 3GZQ 1UXM |
| V5L | Yes | Yes | Yes | Yes | 0.59 ± 0.05 | – | – | – | – | – | – |
| C6F | Yes | Yes | Yes | Yes | 1.35 ± 0.18 | – | – | – | 25.3 | 8907321 | – |
| C6G | Yes | Yes | Yes | Yes | 1.10 ± 0.10 | – | – | – | – | – | – |
| C6S | N.D. | N.D. | Yes | Yes | 0.48 ± 0.02 | – | – | – | 73.5 | 21073275 | – |
| C6W | N.D. | N.D. | Yes | Yes | 1.91 ± 0.25 | – | – | – | – | – | – |
| C6Y | Yes | Yes | Yes | Yes | 1.40 ± 0.11 | – | – | – | – | – | – |
| V7E | Yes | Yes | Yes | No | 0.77 ± 0.04 | – | – | – | – | – | – |
| L8Q | No | Yes | Yes | Yes | 0.99 ± 0.05 | – | – | – | – | – | – |
| L8V | No | Yes | Yes | Yes | 0.75 ± 0.10 | – | – | – | – | – | – |
| G10R | No | Yes | Yes | Yes | 0.96 ± 0.13 | – | – | – | – | – | – |
| G10V | No | Yes | Yes | Yes | 1.05 ± 0.06 | – | – | – | – | – | – |
| D11A | N.D. | Yes | N.D. | Yes | 0.36 ± 0.04 | – | – | – | – | – | – |
| D11Y | N.D. | Yes | N.D. | Yes | 0.42 ± 0.04 | – | – | – | – | – | – |
| G12R | No | Yes | Yes | Yes | 0.96 ± 0.04 | – | – | – | – | – | – |
| V14G | Yes | Yes | Yes | Yes | 0.92 ± 0.04 | – | – | – | – | – | – |
| V14M | No | Yes | Yes | Yes | 0.97 ± 0.09 | – | – | – | – | – | – |
| G16A | Yes | Yes | Yes | Yes | 1.00 ± 0.10 | – | – | – | – | – | – |
| G16S | Yes | Yes | Yes | Yes | 1.23 ± 0.05 | – | – | – | – | – | – |
| I18del | N.D. | N.D. | Yes | Yes | 0.99 ± 0.05 | – | – | – | – | – | – |
| N19S | Yes | Yes | Yes | Yes | 0.79 ± 0.08 | – | – | – | – | – | – |
| F20C | Yes | Yes | Yes | Yes | 1.10 ± 0.12 | – | – | – | – | – | – |
| F20L | Yes | Yes | Yes | Yes | 0.55 ± 0.03 | – | – | – | – | – | – |
| E21G | Yes | Yes | Yes | No | 0.79 ± 0.08 | – | – | – | – | – | – |
| E21K | Yes | Yes | Yes | No | 0.86 ± 0.04 | – | – | – | – | – | – |
| Q22H | N.D. | N.D. | Yes | Yes | 0.83 ± 0.08 | – | – | – | – | – | – |
| Q22L | Yes | Yes | Yes | Yes | 1.11 ± 0.19 | – | – | – | – | – | – |
| Q22R | N.D. | N.D. | Yes | Yes | 0.50 ± 0.03 | – | – | – | – | – | – |
| G27del | N.D. | N.D. | Yes | Yes | 0.91 ± 0.04 | – | – | – | – | – | – |
| V29A | Yes | Yes | Yes | Yes | 1.18 ± 0.17 | – | – | – | – | – | – |
| V29+ | Yes | Yes | Yes | Yes | 0.74 ± 0.13 | – | – | – | – | – | – |
| V31A | N.D. | N.D. | Yes | Yes | 1.15 ± 0.09 | – | – | – | – | – | – |
| G37R | Yes | No | Yes | Yes | 0.86 ± 0.09 | – | – | – | 40 | 8058797 | 1AZV |
| G37V | N.D. | N.D. | Yes | Yes | 0.20 ± 0.02 | – | – | – | – | – | – |
| L38R | Yes | No | Yes | Yes | 0.56 ± 0.06 | – | – | – | – | – | – |
| L38V | Yes | No | Yes | Yes | 0.56 ± 0.05 | 0.72 | 1.48 | 19325915 | – | – | 2WYT |
| E40G | Yes | No | Yes | Yes | 0.59 ± 0.04 | – | – | – | – | – | – |
| G41D | Yes | Yes | Yes | Yes | 1.10 ± 0.19 | – | – | – | 49 | 8058797 | – |
| G41S | Yes | Yes | Yes | Yes | 1.17 ± 0.08 | 0.504 | 1.32 | 11854284 | – | – | – |
| H43R | Yes | Yes | Yes | Yes | 1.12 ± 0.16 | – | – | – | 42.7 | 8351519 | 1PTZ |
| F45C | Yes | Yes | Yes | Yes | 0.90 ± 0.10 | – | – | – | – | – | – |
| F45S | N.D. | N.D. | Yes | Yes | 1.40 ± 0.19 | – | – | – | – | – | – |
| H46D | N.D. | N.D. | Yes | Yes | 1.21 ± 0.10 | – | – | – | – | – | – |
| H46R | Yes | Yes | Yes | Yes | 0.29 ± 0.03 | 0.006 | 0.0495 | 11854284 | – | – | 1OZT 1OEZ |
| V47A | Yes | Yes | Yes | Yes | 1.31 ± 0.12 | – | – | – | – | – | – |
| V47F | Yes | Yes | Yes | Yes | 1.09 ± 0.12 | – | – | – | – | – | – |
| H48Q | Yes | Yes | Yes | Yes | 0.86 ± 0.09 | 0.54 | 1.056 | 11854284 | – | – | – |
| H48R | Yes | Yes | Yes | Yes | 0.73 ± 0.05 | – | – | – | – | – | – |
| E49K | Yes | Yes | Yes | Yes | 0.42 ± 0.05 | – | – | – | – | – | – |
| T54R | No | No | No | No | 0 | – | – | – | – | – | 3ECW |
| C57R | Yes | Yes | Yes | Yes | 0.49 ± 0.07 | – | – | – | – | – | – |
| S59I | Yes | Yes | Yes | Yes | 0.23 ± 0.04 | – | – | – | – | – | – |
| G61R | N.D. | N.D. | Yes | Yes | 0.95 ± 0.06 | – | – | – | – | – | – |
| F64L | N.D. | N.D. | Yes | Yes | 0.78 ± 0.04 | – | – | – | – | – | – |
| N65S | Yes | Yes | Yes | Yes | 0.43 ± 0.03 | – | – | – | – | – | – |
| P66A | Yes | Yes | Yes | Yes | 0.60 ± 0.05 | – | – | – | – | – | – |
| P66R | N.D. | N.D. | Yes | Yes | 0.41 ± 0.04 | – | – | – | – | – | – |
| P66S | N.D. | N.D. | Yes | Yes | 0.53 ± 0.05 | – | – | – | – | – | – |
| L67P | N.D. | N.D. | Yes | Yes | 0.67 ± 0.03 | – | – | – | – | – | – |
| L67R | No | No | No | No | 0 | – | – | – | – | – | – |
| H71Y | N.D. | N.D. | Yes | Yes | 0.57 ± 0.04 | – | – | – | – | – | – |
| G72C | Yes | Yes | Yes | Yes | 0.46 ± 0.06 | – | – | – | – | – | – |
| G72S | Yes | Yes | Yes | Yes | 0.70 ± 0.06 | 0.54 | 0.759 | 11854284 | – | – | – |
| G72D | N.D. | N.D. | Yes | Yes | 0.59 ± 0.05 | – | – | – | – | – | – |
| D76V | Yes | Yes | Yes | Yes | 0.54 ± 0.03 | – | – | – | – | – | – |
| D76Y | Yes | Yes | Yes | Yes | 0.69 ± 0.05 | 0.54 | 1.254 | 11854284 | – | – | – |
| H80R | Yes | Yes | Yes | Yes | 0.67 ± 0.03 | 0.1 | 0.4 | 19325915 | – | – | 3H2Q 3QQD |
| D83G | N.D. | N.D. | Yes | Yes | 0.34 ± 0.05 | – | – | – | – | – | – |
| D83N | N.D. | N.D. | Yes | Yes | 0.23 ± 0.02 | – | – | – | – | – | – |
| L84F1 | Yes | Yes | Yes | Yes | 0.87 ± 0.12 | – | – | – | – | – | – |
| L84F2 | N.D. | N.D. | Yes | Yes | 0.56 ± 0.02 | – | – | – | – | – | – |
| L84V | Yes | Yes | Yes | Yes | 1.02 ± 0.06 | – | – | – | – | – | – |
| G85R | Yes | Yes | Yes | Yes | 1.33 ± 0.16 | 0.012 | 0.0825 | 11854284 | 0 | 8058797 | 3CQP 2ZKX 2ZKW 3CQQ 3CQP 2VR6 2VR7 2VR8 |
| G85S | Yes | Yes | Yes | Yes | 1.10 ± 0.12 | – | – | – | – | – | – |
| N86D | Yes | Yes | Yes | Yes | 1.19 ± 0.18 | – | – | – | – | – | – |
| N86I | Yes | Yes | Yes | Yes | 1.24 ± 0.08 | – | – | – | – | – | – |
| N86K | Yes | Yes | Yes | Yes | 1.09 ± 0.11 | – | – | – | – | – | – |
| N86S | Yes | Yes | Yes | Yes | 1.07 ± 0.08 | – | – | – | – | – | – |
| V87A | Yes | Yes | Yes | Yes | 1.51 ± 0.11 | – | – | – | – | – | – |
| V87M | Yes | Yes | Yes | Yes | 1.77 ± 0.16 | – | – | – | – | – | – |
| T88del | Yes | Yes | Yes | Yes | 1.69 ± 0.17 | – | – | – | – | – | – |
| A89T | Yes | Yes | Yes | Yes | 1.29 ± 0.09 | – | – | – | – | – | – |
| A89V | Yes | Yes | Yes | Yes | 1.29 ± 0.11 | – | – | – | – | – | – |
| D90A | Yes | Yes | Yes | Yes | 0.70 ± 0.06 | 0.54 | 1.485 | 11854284 | – | – | – |
| D90V | Yes | Yes | Yes | Yes | 1.98 ± 0.28 | – | – | – | – | – | – |
| D90N | N.D. | N.D. | No | No | 0.00 ± 0.00 | – | – | – | – | – | – |
| D90+ | N.D. | N.D. | Yes | Yes | 0.81 ± 0.02 | – | – | – | – | – | – |
| K91+ | N.D. | N.D. | Yes | Yes | 5.39 ± 0.40 | – | – | – | – | – | – |
| G93C | Yes | Yes | Yes | Yes | 2.18 ± 0.04 | – | – | – | – | – | – |
| G93D | Yes | Yes | Yes | Yes | 1.58 ± 0.11 | – | – | – | 63.2 | 8245985 | – |
| G93R | Yes | Yes | Yes | Yes | 1.69 ± 0.13 | – | – | – | 31.7 | 9065559 | – |
| G93S | Yes | Yes | Yes | Yes | 1.46 ± 0.15 | – | – | – | – | – | – |
| G93V | Yes | Yes | Yes | Yes | 1.69 ± 0.19 | – | – | – | 54.2 | 9065559 | – |
| G93A | Yes | Yes | Yes | Yes | 1.00 | 0.62 | 2.24 | 19325915 | 35.8 | 8351519 | 3GZP 7T8E 2WKO 3GZO 2ZKY |
| V94A | N.D. | N.D. | Yes | Yes | 0.48 ± 0.04 | – | – | – | – | – | – |
| A95G | N.D. | N.D. | Yes | Yes | 0.71 ± 0.10 | – | – | – | – | – | – |
| A95T | Yes | Yes | Yes | Yes | 1.63 ± 0.09 | – | – | – | – | – | – |
| A95V | Yes | Yes | Yes | Yes | 1.16 ± 0.06 | – | – | – | – | – | – |
| D96+ | N.D. | N.D. | Yes | Yes | 1.54 ± 0.20 | – | – | – | – | – | – |
| D96N | No | No | No | No | 0 | – | – | – | – | – | – |
| D96V | No | No | No | No | 0 | – | – | – | – | – | – |
| V97L | Yes | Yes | Yes | Yes | 0.88 ± 0.06 | – | – | – | – | – | – |
| V97M | Yes | Yes | Yes | Yes | 1.49 ± 0.12 | – | – | – | – | – | – |
| I99V | Yes | Yes | Yes | Yes | 1.05 ± 0.09 | – | – | – | – | – | – |
| E100G | Yes | Yes | Yes | Yes | 1.17 ± 0.09 | 0.54 | 2.4 | 19325915 | – | – | – |
| E100K | Yes | Yes | Yes | Yes | 0.80 ± 0.07 | – | – | – | – | – | – |
| D101G | Yes | Yes | Yes | Yes | 1.25 ± 0.06 | – | – | – | – | – | – |
| D101H | Yes | Yes | Yes | Yes | 0.87 ± 0.07 | – | – | – | – | – | – |
| D101N | Yes | Yes | Yes | Yes | 0.29 ± 0.03 | 0.62 | 2.36 | 19325915 | – | – | – |
| D101Y | Yes | Yes | Yes | Yes | 0.83 ± 0.04 | – | – | – | – | – | – |
| I104F | Yes | Yes | Yes | Yes | 0.85 ± 0.09 | – | – | – | – | – | – |
| S105L | Yes | Yes | Yes | Yes | 0.99 ± 0.05 | – | – | – | – | – | – |
| S105del | Yes | Yes | Yes | Yes | 0.96 ± 0.04 | – | – | – | – | – | – |
| L106F | N.D. | N.D. | Yes | Yes | 0.43 ± 0.02 | – | – | – | – | – | – |
| L106V | Yes | Yes | Yes | Yes | 1.02 ± 0.10 | – | – | – | – | – | – |
| S107+ | N.D. | N.D. | Yes | Yes | 25.91 ± 2.11 | – | – | – | – | – | – |
| G108V | Yes | Yes | Yes | Yes | 0.99 ± 0.15 | – | – | – | – | – | – |
| D109Y | N.D. | N.D. | No | Yes | 0.00 ± 0.00 | – | – | – | – | – | – |
| C111Y | Yes | Yes | Yes | Yes | 0.81 ± 0.08 | – | – | – | – | – | – |
| I112M | Yes | Yes | Yes | Yes | 0.97 ± 0.12 | – | – | – | – | – | – |
| I112T | Yes | Yes | Yes | Yes | 1.15 ± 0.09 | – | – | – | 47.3 | 8245985 | – |
| I113F | Yes | Yes | Yes | Yes | 1.03 ± 0.10 | – | – | – | – | – | – |
| I113T | Yes | Yes | Yes | Yes | 1.23 ± 0.10 | – | – | – | 65 | 8058797 | 3ECV 1UXL |
| G114A | Yes | Yes | Yes | Yes | 1.20 ± 0.14 | – | – | – | – | – | – |
| R115C | N.D. | N.D. | Yes | Yes | 0.22 ± 0.02 | – | – | – | – | – | – |
| R115G | Yes | Yes | Yes | Yes | 1.16 ± 0.03 | – | – | – | – | – | – |
| T116R | Yes | Yes | Yes | Yes | 0.52 ± 0.04 | – | – | – | – | – | – |
| L117V | Yes | Yes | Yes | Yes | 0.82 ± 0.05 | – | – | – | – | – | – |
| V118L1 | Yes | Yes | Yes | Yes | 1.18 ± 0.10 | – | – | – | – | – | – |
| V118L2 | Yes | Yes | Yes | Yes | 0.88 ± 0.08 | – | – | – | – | – | – |
| V118M | N.D. | N.D. | Yes | No | 0.22 ± 0.02 | – | – | – | – | – | – |
| V118+ | Yes | Yes | Yes | Yes | 2.01 ± 0.25 | – | – | – | – | – | – |
| V119F | N.D. | N.D. | Yes | Yes | 0.99 ± 0.06 | – | – | – | – | – | – |
| H120L | N.D. | N.D. | Yes | No | 0.03 ± 0.00 | – | – | – | – | – | – |
| E121G | N.D. | N.D. | Yes | Yes | 0.42 ± 0.03 | – | – | – | – | – | – |
| D124G | Yes | Yes | Yes | Yes | 0.56 ± 0.04 | – | – | – | – | – | – |
| D124V | Yes | Yes | Yes | Yes | 0.60 ± 0.01 | 0.012 | 0.033 | 11854284 | – | – | 3H2P |
| D125H | Yes | Yes | Yes | Yes | 0.54 ± 0.07 | 0.09 | 0.3465 | 11854284 | 52.8 | 9065559 | 1P1V |
| L126S | Yes | Yes | Yes | Yes | 0.46 ± 0.05 | – | – | – | – | – | – |
| L126* | Yes | Yes | Yes | Yes | 2.05 ± 0.14 | – | – | – | – | – | 2MP3 |
| L126del | Yes | Yes | Yes | Yes | 1.76 ± 0.10 | – | – | – | – | – | – |
| G127R | N.D. | N.D. | Yes | Yes | 0.49 ± 0.04 | – | – | – | – | – | – |
| G127+ | Yes | Yes | Yes | Yes | 2.19 ± 0.09 | – | – | – | – | – | – |
| K128+1 | N.D. | N.D. | Yes | Yes | 0.82 ± 0.08 | – | – | – | – | – | – |
| K128+2 | N.D. | N.D. | Yes | Yes | 2.64 ± 0.30 | – | – | – | – | – | – |
| E132K | N.D. | N.D. | Yes | Yes | 0.14 ± 0.00 | – | – | – | – | – | – |
| E132+ | Yes | Yes | Yes | Yes | 1.71 ± 0.34 | – | – | – | 46.3 | 9065559 | – |
| E133K | N.D. | N.D. | Yes | Yes | 0.48 ± 0.05 | – | – | – | – | – | – |
| E133V | Yes | Yes | Yes | Yes | 0.99 ± 0.12 | – | – | – | – | – | – |
| E133del | Yes | Yes | Yes | Yes | 0.28 ± 0.01 | 0.54 | 1.386 | 11854284 | – | – | – |
| S134N | Yes | Yes | Yes | Yes | 0.82 ± 0.03 | 0.24 | 0.396 | 11854284 | – | – | 1OZU |
| S134T | N.D. | N.D. | Yes | Yes | 0.43 ± 0.04 | – | – | – | – | – | – |
| T137A | N.D. | N.D. | Yes | Yes | 0.38 ± 0.03 | – | – | – | – | – | – |
| T137R | N.D. | N.D. | Yes | Yes | 0.47 ± 0.05 | – | – | – | – | – | – |
| G138E | N.D. | N.D. | Yes | Yes | 0.53 ± 0.03 | – | – | – | – | – | – |
| N139D | Yes | Yes | Yes | Yes | 0.79 ± 0.06 | – | – | – | – | – | – |
| N139H | Yes | Yes | Yes | Yes | 0.71 ± 0.08 | – | – | – | – | – | – |
| N139K | Yes | Yes | Yes | Yes | 0.73 ± 0.04 | – | – | – | – | – | – |
| A140G | Yes | Yes | Yes | Yes | 0.77 ± 0.07 | – | – | – | – | – | – |
| G141A | N.D. | N.D. | Yes | Yes | 0.69 ± 0.09 | – | – | – | – | – | – |
| G141E | Yes | Yes | Yes | Yes | 1.03 ± 0.12 | – | – | – | – | – | – |
| G141* | Yes | Yes | Yes | Yes | 1.62 ± 0.19 | – | – | – | – | – | – |
| G141R | N.D. | N.D. | Yes | Yes | 0.55 ± 0.08 | – | – | – | – | – | – |
| L144F1 | Yes | Yes | Yes | Yes | 1.06 ± 0.07 | – | – | – | – | – | – |
| L144F2 | Yes | Yes | Yes | Yes | 0.89 ± 0.07 | – | – | – | – | – | – |
| L144+ | N.D. | N.D. | Yes | Yes | 1.51 ± 0.16 | – | – | – | – | – | – |
| L144S | Yes | Yes | Yes | Yes | 1.02 ± 0.03 | – | – | – | – | – | – |
| A145G | Yes | Yes | Yes | Yes | 1.12 ± 0.06 | – | – | – | – | – | – |
| A145T | Yes | Yes | Yes | Yes | 1.12 ± 0.06 | – | – | – | – | – | – |
| C146R | Yes | Yes | Yes | Yes | 1.20 ± 0.09 | 0.74 | 2.58 | 19325915 | – | – | – |
| C146* | Yes | Yes | Yes | Yes | 1.43 ± 0.15 | – | – | – | – | – | – |
| G147D | Yes | Yes | Yes | Yes | 1.42 ± 0.09 | – | – | – | – | – | – |
| G147R | Yes | Yes | Yes | Yes | 1.42 ± 0.13 | – | – | – | – | – | – |
| G147S | N.D. | N.D. | Yes | Yes | 1.10 ± 0.12 | – | – | – | – | – | – |
| G147C | N.D. | N.D. | Yes | Yes | 0.38 ± 0.04 | – | – | – | – | – | – |
| V148A | N.D. | N.D. | Yes | Yes | 0.81 ± 0.07 | – | – | – | – | – | – |
| V148G | Yes | Yes | Yes | Yes | 1.07 ± 0.08 | – | – | – | 35.7 | 8351519 | – |
| V148I | No | No | No | No | 0 | – | – | – | – | – | – |
| I149T | Yes | Yes | Yes | Yes | 1.38 ± 0.16 | 0.22 | 1.44 | 19325915 | – | – | 4OH2 |
| I149V | N.D. | N.D. | Yes | Yes | 0.56 ± 0.02 | – | – | – | – | – | – |
| I151S | Yes | Yes | Yes | Yes | 0.76 ± 0.07 | – | – | – | – | – | – |
| I151T | Yes | Yes | Yes | Yes | 0.62 ± 0.07 | – | – | – | – | – | – |
| A152P | N.D. | N.D. | Yes | Yes | 0.44 ± 0.02 | – | – | – | – | – | – |
| Mutation | Recognized by MS785 | Recognized by MS27 | Recognized by MS785 and MS27 (mix) | Derlin-1(CT4) interaction | WB band intensity (mean ± SD, n=3) | copper content (atoms per dimer) | zinc content (atoms per dimer) | reference (PMID) | enzyme activity (%, compared to WT) | reference (PMID) | structure (PDB ID) |
|---|
| Mutation | Recognized by MS785 | Recognized by MS27 | Recognized by MS785 and MS27 (mix) | Derlin-1(CT4) interaction | WB band intensity (mean ± SD, n=3) | copper content (atoms per dimer) | zinc content (atoms per dimer) | reference (PMID) | enzyme activity (%, compared to WT) | reference (PMID) | structure (PDB ID) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Mutation | Recognized by MS785 | Recognized by MS27 | Recognized by MS785 and MS27 (mix) | Derlin-1(CT4) interaction | WB band intensity (mean ± SD, n=3) | copper content (atoms per dimer) | zinc content (atoms per dimer) | reference (PMID) | enzyme activity (%, compared to WT) | reference (PMID) | structure (PDB ID) |
| Mutation | Recognized by MS785 | Recognized by MS27 | Recognized by MS785 and MS27 (mix) | Derlin-1(CT4) interaction | WB band intensity (mean ± SD, n=3) | copper content (atoms per dimer) | zinc content (atoms per dimer) | reference (PMID) | enzyme activity (%, compared to WT) | reference (PMID) | structure (PDB ID) |
| K3E | Yes | Yes | Yes | Yes | 1.11 ± 0.14 | – | – | – | – | – | – |
| A4S | Yes | Yes | Yes | Yes | 1.11 ± 0.10 | – | – | – | – | – | – |
| A4P | N.D. | N.D. | Yes | Yes | 1.25 ± 0.14 | – | – | – | – | – | – |
| A4F | N.D. | N.D. | Yes | Yes | 0.09 ± 0.00 | – | – | – | – | – | – |
| A4T | Yes | Yes | Yes | Yes | 1.11 ± 0.14 | – | – | – | – | – | – |
| A4V | Yes | Yes | Yes | Yes | 0.95 ± 0.08 | 0.4 | 2.4 | 19325915 | 57.8 | 8245985 | 3GZQ 1UXM |
| V5L | Yes | Yes | Yes | Yes | 0.59 ± 0.05 | – | – | – | – | – | – |
| C6F | Yes | Yes | Yes | Yes | 1.35 ± 0.18 | – | – | – | 25.3 | 8907321 | – |
| C6G | Yes | Yes | Yes | Yes | 1.10 ± 0.10 | – | – | – | – | – | – |
| C6S | N.D. | N.D. | Yes | Yes | 0.48 ± 0.02 | – | – | – | 73.5 | 21073275 | – |
| C6W | N.D. | N.D. | Yes | Yes | 1.91 ± 0.25 | – | – | – | – | – | – |
| C6Y | Yes | Yes | Yes | Yes | 1.40 ± 0.11 | – | – | – | – | – | – |
| V7E | Yes | Yes | Yes | No | 0.77 ± 0.04 | – | – | – | – | – | – |
| L8Q | No | Yes | Yes | Yes | 0.99 ± 0.05 | – | – | – | – | – | – |
| L8V | No | Yes | Yes | Yes | 0.75 ± 0.10 | – | – | – | – | – | – |
| G10R | No | Yes | Yes | Yes | 0.96 ± 0.13 | – | – | – | – | – | – |
| G10V | No | Yes | Yes | Yes | 1.05 ± 0.06 | – | – | – | – | – | – |
| D11A | N.D. | Yes | N.D. | Yes | 0.36 ± 0.04 | – | – | – | – | – | – |
| D11Y | N.D. | Yes | N.D. | Yes | 0.42 ± 0.04 | – | – | – | – | – | – |
| G12R | No | Yes | Yes | Yes | 0.96 ± 0.04 | – | – | – | – | – | – |
| V14G | Yes | Yes | Yes | Yes | 0.92 ± 0.04 | – | – | – | – | – | – |
| V14M | No | Yes | Yes | Yes | 0.97 ± 0.09 | – | – | – | – | – | – |
| G16A | Yes | Yes | Yes | Yes | 1.00 ± 0.10 | – | – | – | – | – | – |
| G16S | Yes | Yes | Yes | Yes | 1.23 ± 0.05 | – | – | – | – | – | – |
| I18del | N.D. | N.D. | Yes | Yes | 0.99 ± 0.05 | – | – | – | – | – | – |
| N19S | Yes | Yes | Yes | Yes | 0.79 ± 0.08 | – | – | – | – | – | – |
| F20C | Yes | Yes | Yes | Yes | 1.10 ± 0.12 | – | – | – | – | – | – |
| F20L | Yes | Yes | Yes | Yes | 0.55 ± 0.03 | – | – | – | – | – | – |
| E21G | Yes | Yes | Yes | No | 0.79 ± 0.08 | – | – | – | – | – | – |
| E21K | Yes | Yes | Yes | No | 0.86 ± 0.04 | – | – | – | – | – | – |
| Q22H | N.D. | N.D. | Yes | Yes | 0.83 ± 0.08 | – | – | – | – | – | – |
| Q22L | Yes | Yes | Yes | Yes | 1.11 ± 0.19 | – | – | – | – | – | – |
| Q22R | N.D. | N.D. | Yes | Yes | 0.50 ± 0.03 | – | – | – | – | – | – |
| G27del | N.D. | N.D. | Yes | Yes | 0.91 ± 0.04 | – | – | – | – | – | – |
| V29A | Yes | Yes | Yes | Yes | 1.18 ± 0.17 | – | – | – | – | – | – |
| V29+ | Yes | Yes | Yes | Yes | 0.74 ± 0.13 | – | – | – | – | – | – |
| V31A | N.D. | N.D. | Yes | Yes | 1.15 ± 0.09 | – | – | – | – | – | – |
| G37R | Yes | No | Yes | Yes | 0.86 ± 0.09 | – | – | – | 40 | 8058797 | 1AZV |
| G37V | N.D. | N.D. | Yes | Yes | 0.20 ± 0.02 | – | – | – | – | – | – |
| L38R | Yes | No | Yes | Yes | 0.56 ± 0.06 | – | – | – | – | – | – |
| L38V | Yes | No | Yes | Yes | 0.56 ± 0.05 | 0.72 | 1.48 | 19325915 | – | – | 2WYT |
| E40G | Yes | No | Yes | Yes | 0.59 ± 0.04 | – | – | – | – | – | – |
| G41D | Yes | Yes | Yes | Yes | 1.10 ± 0.19 | – | – | – | 49 | 8058797 | – |
| G41S | Yes | Yes | Yes | Yes | 1.17 ± 0.08 | 0.504 | 1.32 | 11854284 | – | – | – |
| H43R | Yes | Yes | Yes | Yes | 1.12 ± 0.16 | – | – | – | 42.7 | 8351519 | 1PTZ |
| F45C | Yes | Yes | Yes | Yes | 0.90 ± 0.10 | – | – | – | – | – | – |
| F45S | N.D. | N.D. | Yes | Yes | 1.40 ± 0.19 | – | – | – | – | – | – |
| H46D | N.D. | N.D. | Yes | Yes | 1.21 ± 0.10 | – | – | – | – | – | – |
| H46R | Yes | Yes | Yes | Yes | 0.29 ± 0.03 | 0.006 | 0.0495 | 11854284 | – | – | 1OZT 1OEZ |
| V47A | Yes | Yes | Yes | Yes | 1.31 ± 0.12 | – | – | – | – | – | – |
| V47F | Yes | Yes | Yes | Yes | 1.09 ± 0.12 | – | – | – | – | – | – |
| H48Q | Yes | Yes | Yes | Yes | 0.86 ± 0.09 | 0.54 | 1.056 | 11854284 | – | – | – |
| H48R | Yes | Yes | Yes | Yes | 0.73 ± 0.05 | – | – | – | – | – | – |
| E49K | Yes | Yes | Yes | Yes | 0.42 ± 0.05 | – | – | – | – | – | – |
| T54R | No | No | No | No | 0 | – | – | – | – | – | 3ECW |
| C57R | Yes | Yes | Yes | Yes | 0.49 ± 0.07 | – | – | – | – | – | – |
| S59I | Yes | Yes | Yes | Yes | 0.23 ± 0.04 | – | – | – | – | – | – |
| G61R | N.D. | N.D. | Yes | Yes | 0.95 ± 0.06 | – | – | – | – | – | – |
| F64L | N.D. | N.D. | Yes | Yes | 0.78 ± 0.04 | – | – | – | – | – | – |
| N65S | Yes | Yes | Yes | Yes | 0.43 ± 0.03 | – | – | – | – | – | – |
| P66A | Yes | Yes | Yes | Yes | 0.60 ± 0.05 | – | – | – | – | – | – |
| P66R | N.D. | N.D. | Yes | Yes | 0.41 ± 0.04 | – | – | – | – | – | – |
| P66S | N.D. | N.D. | Yes | Yes | 0.53 ± 0.05 | – | – | – | – | – | – |
| L67P | N.D. | N.D. | Yes | Yes | 0.67 ± 0.03 | – | – | – | – | – | – |
| L67R | No | No | No | No | 0 | – | – | – | – | – | – |
| H71Y | N.D. | N.D. | Yes | Yes | 0.57 ± 0.04 | – | – | – | – | – | – |
| G72C | Yes | Yes | Yes | Yes | 0.46 ± 0.06 | – | – | – | – | – | – |
| G72S | Yes | Yes | Yes | Yes | 0.70 ± 0.06 | 0.54 | 0.759 | 11854284 | – | – | – |
| G72D | N.D. | N.D. | Yes | Yes | 0.59 ± 0.05 | – | – | – | – | – | – |
| D76V | Yes | Yes | Yes | Yes | 0.54 ± 0.03 | – | – | – | – | – | – |
| D76Y | Yes | Yes | Yes | Yes | 0.69 ± 0.05 | 0.54 | 1.254 | 11854284 | – | – | – |
| H80R | Yes | Yes | Yes | Yes | 0.67 ± 0.03 | 0.1 | 0.4 | 19325915 | – | – | 3H2Q 3QQD |
| D83G | N.D. | N.D. | Yes | Yes | 0.34 ± 0.05 | – | – | – | – | – | – |
| D83N | N.D. | N.D. | Yes | Yes | 0.23 ± 0.02 | – | – | – | – | – | – |
| L84F1 | Yes | Yes | Yes | Yes | 0.87 ± 0.12 | – | – | – | – | – | – |
| L84F2 | N.D. | N.D. | Yes | Yes | 0.56 ± 0.02 | – | – | – | – | – | – |
| L84V | Yes | Yes | Yes | Yes | 1.02 ± 0.06 | – | – | – | – | – | – |
| G85R | Yes | Yes | Yes | Yes | 1.33 ± 0.16 | 0.012 | 0.0825 | 11854284 | 0 | 8058797 | 3CQP 2ZKX 2ZKW 3CQQ 3CQP 2VR6 2VR7 2VR8 |
| G85S | Yes | Yes | Yes | Yes | 1.10 ± 0.12 | – | – | – | – | – | – |
| N86D | Yes | Yes | Yes | Yes | 1.19 ± 0.18 | – | – | – | – | – | – |
| N86I | Yes | Yes | Yes | Yes | 1.24 ± 0.08 | – | – | – | – | – | – |
| N86K | Yes | Yes | Yes | Yes | 1.09 ± 0.11 | – | – | – | – | – | – |
| N86S | Yes | Yes | Yes | Yes | 1.07 ± 0.08 | – | – | – | – | – | – |
| V87A | Yes | Yes | Yes | Yes | 1.51 ± 0.11 | – | – | – | – | – | – |
| V87M | Yes | Yes | Yes | Yes | 1.77 ± 0.16 | – | – | – | – | – | – |
| T88del | Yes | Yes | Yes | Yes | 1.69 ± 0.17 | – | – | – | – | – | – |
| A89T | Yes | Yes | Yes | Yes | 1.29 ± 0.09 | – | – | – | – | – | – |
| A89V | Yes | Yes | Yes | Yes | 1.29 ± 0.11 | – | – | – | – | – | – |
| D90A | Yes | Yes | Yes | Yes | 0.70 ± 0.06 | 0.54 | 1.485 | 11854284 | – | – | – |
| D90V | Yes | Yes | Yes | Yes | 1.98 ± 0.28 | – | – | – | – | – | – |
| D90N | N.D. | N.D. | No | No | 0.00 ± 0.00 | – | – | – | – | – | – |
| D90+ | N.D. | N.D. | Yes | Yes | 0.81 ± 0.02 | – | – | – | – | – | – |
| K91+ | N.D. | N.D. | Yes | Yes | 5.39 ± 0.40 | – | – | – | – | – | – |
| G93C | Yes | Yes | Yes | Yes | 2.18 ± 0.04 | – | – | – | – | – | – |
| G93D | Yes | Yes | Yes | Yes | 1.58 ± 0.11 | – | – | – | 63.2 | 8245985 | – |
| G93R | Yes | Yes | Yes | Yes | 1.69 ± 0.13 | – | – | – | 31.7 | 9065559 | – |
| G93S | Yes | Yes | Yes | Yes | 1.46 ± 0.15 | – | – | – | – | – | – |
| G93V | Yes | Yes | Yes | Yes | 1.69 ± 0.19 | – | – | – | 54.2 | 9065559 | – |
| G93A | Yes | Yes | Yes | Yes | 1.00 | 0.62 | 2.24 | 19325915 | 35.8 | 8351519 | 3GZP 7T8E 2WKO 3GZO 2ZKY |
| V94A | N.D. | N.D. | Yes | Yes | 0.48 ± 0.04 | – | – | – | – | – | – |
| A95G | N.D. | N.D. | Yes | Yes | 0.71 ± 0.10 | – | – | – | – | – | – |
| A95T | Yes | Yes | Yes | Yes | 1.63 ± 0.09 | – | – | – | – | – | – |
| A95V | Yes | Yes | Yes | Yes | 1.16 ± 0.06 | – | – | – | – | – | – |
| D96+ | N.D. | N.D. | Yes | Yes | 1.54 ± 0.20 | – | – | – | – | – | – |
| D96N | No | No | No | No | 0 | – | – | – | – | – | – |
| D96V | No | No | No | No | 0 | – | – | – | – | – | – |
| V97L | Yes | Yes | Yes | Yes | 0.88 ± 0.06 | – | – | – | – | – | – |
| V97M | Yes | Yes | Yes | Yes | 1.49 ± 0.12 | – | – | – | – | – | – |
| I99V | Yes | Yes | Yes | Yes | 1.05 ± 0.09 | – | – | – | – | – | – |
| E100G | Yes | Yes | Yes | Yes | 1.17 ± 0.09 | 0.54 | 2.4 | 19325915 | – | – | – |
| E100K | Yes | Yes | Yes | Yes | 0.80 ± 0.07 | – | – | – | – | – | – |
| D101G | Yes | Yes | Yes | Yes | 1.25 ± 0.06 | – | – | – | – | – | – |
| D101H | Yes | Yes | Yes | Yes | 0.87 ± 0.07 | – | – | – | – | – | – |
| D101N | Yes | Yes | Yes | Yes | 0.29 ± 0.03 | 0.62 | 2.36 | 19325915 | – | – | – |
| D101Y | Yes | Yes | Yes | Yes | 0.83 ± 0.04 | – | – | – | – | – | – |
| I104F | Yes | Yes | Yes | Yes | 0.85 ± 0.09 | – | – | – | – | – | – |
| S105L | Yes | Yes | Yes | Yes | 0.99 ± 0.05 | – | – | – | – | – | – |
| S105del | Yes | Yes | Yes | Yes | 0.96 ± 0.04 | – | – | – | – | – | – |
| L106F | N.D. | N.D. | Yes | Yes | 0.43 ± 0.02 | – | – | – | – | – | – |
| L106V | Yes | Yes | Yes | Yes | 1.02 ± 0.10 | – | – | – | – | – | – |
| S107+ | N.D. | N.D. | Yes | Yes | 25.91 ± 2.11 | – | – | – | – | – | – |
| G108V | Yes | Yes | Yes | Yes | 0.99 ± 0.15 | – | – | – | – | – | – |
| D109Y | N.D. | N.D. | No | Yes | 0.00 ± 0.00 | – | – | – | – | – | – |
| C111Y | Yes | Yes | Yes | Yes | 0.81 ± 0.08 | – | – | – | – | – | – |
| I112M | Yes | Yes | Yes | Yes | 0.97 ± 0.12 | – | – | – | – | – | – |
| I112T | Yes | Yes | Yes | Yes | 1.15 ± 0.09 | – | – | – | 47.3 | 8245985 | – |
| I113F | Yes | Yes | Yes | Yes | 1.03 ± 0.10 | – | – | – | – | – | – |
| I113T | Yes | Yes | Yes | Yes | 1.23 ± 0.10 | – | – | – | 65 | 8058797 | 3ECV 1UXL |
| G114A | Yes | Yes | Yes | Yes | 1.20 ± 0.14 | – | – | – | – | – | – |
| R115C | N.D. | N.D. | Yes | Yes | 0.22 ± 0.02 | – | – | – | – | – | – |
| R115G | Yes | Yes | Yes | Yes | 1.16 ± 0.03 | – | – | – | – | – | – |
| T116R | Yes | Yes | Yes | Yes | 0.52 ± 0.04 | – | – | – | – | – | – |
| L117V | Yes | Yes | Yes | Yes | 0.82 ± 0.05 | – | – | – | – | – | – |
| V118L1 | Yes | Yes | Yes | Yes | 1.18 ± 0.10 | – | – | – | – | – | – |
| V118L2 | Yes | Yes | Yes | Yes | 0.88 ± 0.08 | – | – | – | – | – | – |
| V118M | N.D. | N.D. | Yes | No | 0.22 ± 0.02 | – | – | – | – | – | – |
| V118+ | Yes | Yes | Yes | Yes | 2.01 ± 0.25 | – | – | – | – | – | – |
| V119F | N.D. | N.D. | Yes | Yes | 0.99 ± 0.06 | – | – | – | – | – | – |
| H120L | N.D. | N.D. | Yes | No | 0.03 ± 0.00 | – | – | – | – | – | – |
| E121G | N.D. | N.D. | Yes | Yes | 0.42 ± 0.03 | – | – | – | – | – | – |
| D124G | Yes | Yes | Yes | Yes | 0.56 ± 0.04 | – | – | – | – | – | – |
| D124V | Yes | Yes | Yes | Yes | 0.60 ± 0.01 | 0.012 | 0.033 | 11854284 | – | – | 3H2P |
| D125H | Yes | Yes | Yes | Yes | 0.54 ± 0.07 | 0.09 | 0.3465 | 11854284 | 52.8 | 9065559 | 1P1V |
| L126S | Yes | Yes | Yes | Yes | 0.46 ± 0.05 | – | – | – | – | – | – |
| L126* | Yes | Yes | Yes | Yes | 2.05 ± 0.14 | – | – | – | – | – | 2MP3 |
| L126del | Yes | Yes | Yes | Yes | 1.76 ± 0.10 | – | – | – | – | – | – |
| G127R | N.D. | N.D. | Yes | Yes | 0.49 ± 0.04 | – | – | – | – | – | – |
| G127+ | Yes | Yes | Yes | Yes | 2.19 ± 0.09 | – | – | – | – | – | – |
| K128+1 | N.D. | N.D. | Yes | Yes | 0.82 ± 0.08 | – | – | – | – | – | – |
| K128+2 | N.D. | N.D. | Yes | Yes | 2.64 ± 0.30 | – | – | – | – | – | – |
| E132K | N.D. | N.D. | Yes | Yes | 0.14 ± 0.00 | – | – | – | – | – | – |
| E132+ | Yes | Yes | Yes | Yes | 1.71 ± 0.34 | – | – | – | 46.3 | 9065559 | – |
| E133K | N.D. | N.D. | Yes | Yes | 0.48 ± 0.05 | – | – | – | – | – | – |
| E133V | Yes | Yes | Yes | Yes | 0.99 ± 0.12 | – | – | – | – | – | – |
| E133del | Yes | Yes | Yes | Yes | 0.28 ± 0.01 | 0.54 | 1.386 | 11854284 | – | – | – |
| S134N | Yes | Yes | Yes | Yes | 0.82 ± 0.03 | 0.24 | 0.396 | 11854284 | – | – | 1OZU |
| S134T | N.D. | N.D. | Yes | Yes | 0.43 ± 0.04 | – | – | – | – | – | – |
| T137A | N.D. | N.D. | Yes | Yes | 0.38 ± 0.03 | – | – | – | – | – | – |
| T137R | N.D. | N.D. | Yes | Yes | 0.47 ± 0.05 | – | – | – | – | – | – |
| G138E | N.D. | N.D. | Yes | Yes | 0.53 ± 0.03 | – | – | – | – | – | – |
| N139D | Yes | Yes | Yes | Yes | 0.79 ± 0.06 | – | – | – | – | – | – |
| N139H | Yes | Yes | Yes | Yes | 0.71 ± 0.08 | – | – | – | – | – | – |
| N139K | Yes | Yes | Yes | Yes | 0.73 ± 0.04 | – | – | – | – | – | – |
| A140G | Yes | Yes | Yes | Yes | 0.77 ± 0.07 | – | – | – | – | – | – |
| G141A | N.D. | N.D. | Yes | Yes | 0.69 ± 0.09 | – | – | – | – | – | – |
| G141E | Yes | Yes | Yes | Yes | 1.03 ± 0.12 | – | – | – | – | – | – |
| G141* | Yes | Yes | Yes | Yes | 1.62 ± 0.19 | – | – | – | – | – | – |
| G141R | N.D. | N.D. | Yes | Yes | 0.55 ± 0.08 | – | – | – | – | – | – |
| L144F1 | Yes | Yes | Yes | Yes | 1.06 ± 0.07 | – | – | – | – | – | – |
| L144F2 | Yes | Yes | Yes | Yes | 0.89 ± 0.07 | – | – | – | – | – | – |
| L144+ | N.D. | N.D. | Yes | Yes | 1.51 ± 0.16 | – | – | – | – | – | – |
| L144S | Yes | Yes | Yes | Yes | 1.02 ± 0.03 | – | – | – | – | – | – |
| A145G | Yes | Yes | Yes | Yes | 1.12 ± 0.06 | – | – | – | – | – | – |
| A145T | Yes | Yes | Yes | Yes | 1.12 ± 0.06 | – | – | – | – | – | – |
| C146R | Yes | Yes | Yes | Yes | 1.20 ± 0.09 | 0.74 | 2.58 | 19325915 | – | – | – |
| C146* | Yes | Yes | Yes | Yes | 1.43 ± 0.15 | – | – | – | – | – | – |
| G147D | Yes | Yes | Yes | Yes | 1.42 ± 0.09 | – | – | – | – | – | – |
| G147R | Yes | Yes | Yes | Yes | 1.42 ± 0.13 | – | – | – | – | – | – |
| G147S | N.D. | N.D. | Yes | Yes | 1.10 ± 0.12 | – | – | – | – | – | – |
| G147C | N.D. | N.D. | Yes | Yes | 0.38 ± 0.04 | – | – | – | – | – | – |
| V148A | N.D. | N.D. | Yes | Yes | 0.81 ± 0.07 | – | – | – | – | – | – |
| V148G | Yes | Yes | Yes | Yes | 1.07 ± 0.08 | – | – | – | 35.7 | 8351519 | – |
| V148I | No | No | No | No | 0 | – | – | – | – | – | – |
| I149T | Yes | Yes | Yes | Yes | 1.38 ± 0.16 | 0.22 | 1.44 | 19325915 | – | – | 4OH2 |
| I149V | N.D. | N.D. | Yes | Yes | 0.56 ± 0.02 | – | – | – | – | – | – |
| I151S | Yes | Yes | Yes | Yes | 0.76 ± 0.07 | – | – | – | – | – | – |
| I151T | Yes | Yes | Yes | Yes | 0.62 ± 0.07 | – | – | – | – | – | – |
| A152P | N.D. | N.D. | Yes | Yes | 0.44 ± 0.02 | – | – | – | – | – | – |
| Gene ID | Gene Symbol | Gene Name |
|---|---|---|
| 55515 | ASIC4 | acid sensing ion channel subunit family member 4 |
| 1015 | CDH17 | cadherin 17 |
| 91368 | CDKN2AIPNL | CDKN2A interacting protein N-terminal like |
| 51226 | COPZ2 | COPI coat complex subunit zeta 2 |
| 54967 | CT55 | cancer/testis antigen 55 |
| 26094 | DCAF4 | DDB1 and CUL4 associated factor 4 |
| 1639 | DCTN1 | dynactin subunit 1 |
| 26515 | TIMM10B | translocase of inner mitochondrial membrane 10B |
| 3613 | IMPA2 | inositol monophosphatase 2 |
| 338785 | KRT79 | keratin 79 |
| 337959 | KRTAP13-2 | keratin associated protein 13-2 |
| 112970 | KTI12 | KTI12 chromatin associated homolog |
| 4647 | MYO7A | myosin VIIA |
| 51667 | NUB1 | negative regulator of ubiquitin like proteins 1 |
| 284433 | OR10H5 | olfactory receptor family 10 subfamily H member 5 |
| 143503 | OR51E1 | olfactory receptor family 51 subfamily E member 1 |
| 5239 | PGM5 | phosphoglucomutase 5 |
| 55200 | PLEKHG6 | pleckstrin homology and RhoGEF domain containing G6 |
| 23759 | PPIL2 | peptidylprolyl isomerase like 2 |
| 644096 | SDHAF1 | succinate dehydrogenase complex assembly factor 1 |
| 6442 | SGCA | sarcoglycan alpha |
| 6667 | SP1 | Sp1 transcription factor |
| 9043 | SPAG9 | sperm associated antigen 9 |
| 6426 | SRSF1 | serine and arginine rich splicing factor 1 |
| 55852 | TEX2 | testis expressed 2 |
| 56674 | TMEM9B | TMEM9 domain family member B |
| 130617 | ZFAND2B | zinc finger AN1-type containing 2B |
| 79830 | ZMYM1 | zinc finger MYM-type containing 1 |
| 140467 | ZNF358 | zinc finger protein 358 |
| 51545 | ZNF581 | zinc finger protein 581 |