Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20823 | 62692;62693;62694 | chr2:178589258;178589257;178589256 | chr2:179453985;179453984;179453983 |
| N2AB | 19182 | 57769;57770;57771 | chr2:178589258;178589257;178589256 | chr2:179453985;179453984;179453983 |
| N2A | 18255 | 54988;54989;54990 | chr2:178589258;178589257;178589256 | chr2:179453985;179453984;179453983 |
| N2B | 11758 | 35497;35498;35499 | chr2:178589258;178589257;178589256 | chr2:179453985;179453984;179453983 |
| Novex-1 | 11883 | 35872;35873;35874 | chr2:178589258;178589257;178589256 | chr2:179453985;179453984;179453983 |
| Novex-2 | 11950 | 36073;36074;36075 | chr2:178589258;178589257;178589256 | chr2:179453985;179453984;179453983 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs779686013  |
-0.111 | 0.032 | D | 0.41 | 0.077 | 0.367042808489 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/C | rs779686013 |
-0.111 | 0.032 | D | 0.41 | 0.077 | 0.367042808489 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs779686013 |
-0.111 | 0.032 | D | 0.41 | 0.077 | 0.367042808489 | gnomAD-4.0.0 | 8.05786E-06 | None | None | None | None | N | None | 2.67065E-05 | 1.66795E-05 | None | 0 | 0 | None | 0 | 0 | 8.47732E-06 | 0 | 0 |
| R/H | rs758019778 |
-0.719 | 0.014 | N | 0.283 | 0.074 | 0.300110245524 | gnomAD-2.1.1 | 5.23E-05 | None | None | None | None | N | None | 6.46E-05 | 5.8E-05 | None | 0 | 0 | None | 2.28833E-04 | None | 0 | 2.66E-05 | 0 |
| R/H | rs758019778 |
-0.719 | 0.014 | N | 0.283 | 0.074 | 0.300110245524 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/H | rs758019778 |
-0.719 | 0.014 | N | 0.283 | 0.074 | 0.300110245524 | gnomAD-4.0.0 | 2.85121E-05 | None | None | None | None | N | None | 1.33497E-05 | 6.67267E-05 | None | 3.37998E-05 | 0 | None | 0 | 0 | 1.61068E-05 | 2.08617E-04 | 3.20297E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.0797 | likely_benign | 0.0971 | benign | -0.347 | Destabilizing | None | N | 0.201 | neutral | None | None | None | None | N |
| R/C | 0.0988 | likely_benign | 0.1268 | benign | -0.26 | Destabilizing | 0.032 | N | 0.41 | neutral | D | 0.523458626 | None | None | N |
| R/D | 0.2131 | likely_benign | 0.2557 | benign | -0.08 | Destabilizing | None | N | 0.211 | neutral | None | None | None | None | N |
| R/E | 0.1791 | likely_benign | 0.1916 | benign | -0.028 | Destabilizing | None | N | 0.176 | neutral | None | None | None | None | N |
| R/F | 0.2302 | likely_benign | 0.2683 | benign | -0.614 | Destabilizing | None | N | 0.245 | neutral | None | None | None | None | N |
| R/G | 0.0616 | likely_benign | 0.0659 | benign | -0.547 | Destabilizing | None | N | 0.183 | neutral | N | 0.419235393 | None | None | N |
| R/H | 0.0715 | likely_benign | 0.0787 | benign | -0.977 | Destabilizing | 0.014 | N | 0.283 | neutral | N | 0.461159374 | None | None | N |
| R/I | 0.1211 | likely_benign | 0.1404 | benign | 0.15 | Stabilizing | None | N | 0.208 | neutral | None | None | None | None | N |
| R/K | 0.0688 | likely_benign | 0.0694 | benign | -0.29 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| R/L | 0.1033 | likely_benign | 0.12 | benign | 0.15 | Stabilizing | None | N | 0.209 | neutral | N | 0.430375107 | None | None | N |
| R/M | 0.1171 | likely_benign | 0.127 | benign | -0.001 | Destabilizing | 0.002 | N | 0.349 | neutral | None | None | None | None | N |
| R/N | 0.1272 | likely_benign | 0.1525 | benign | 0.19 | Stabilizing | None | N | 0.176 | neutral | None | None | None | None | N |
| R/P | 0.5355 | ambiguous | 0.5971 | pathogenic | 0.004 | Stabilizing | None | N | 0.228 | neutral | N | 0.458292427 | None | None | N |
| R/Q | 0.0749 | likely_benign | 0.079 | benign | -0.071 | Destabilizing | 0.001 | N | 0.276 | neutral | None | None | None | None | N |
| R/S | 0.0786 | likely_benign | 0.0961 | benign | -0.365 | Destabilizing | None | N | 0.188 | neutral | N | 0.428814882 | None | None | N |
| R/T | 0.0553 | likely_benign | 0.0614 | benign | -0.179 | Destabilizing | None | N | 0.188 | neutral | None | None | None | None | N |
| R/V | 0.1178 | likely_benign | 0.1387 | benign | 0.004 | Stabilizing | None | N | 0.236 | neutral | None | None | None | None | N |
| R/W | 0.1731 | likely_benign | 0.1777 | benign | -0.526 | Destabilizing | 0.051 | N | 0.351 | neutral | None | None | None | None | N |
| R/Y | 0.1917 | likely_benign | 0.2259 | benign | -0.137 | Destabilizing | None | N | 0.195 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.