Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26669 | 80230;80231;80232 | chr2:178566127;178566126;178566125 | chr2:179430854;179430853;179430852 |
| N2AB | 25028 | 75307;75308;75309 | chr2:178566127;178566126;178566125 | chr2:179430854;179430853;179430852 |
| N2A | 24101 | 72526;72527;72528 | chr2:178566127;178566126;178566125 | chr2:179430854;179430853;179430852 |
| N2B | 17604 | 53035;53036;53037 | chr2:178566127;178566126;178566125 | chr2:179430854;179430853;179430852 |
| Novex-1 | 17729 | 53410;53411;53412 | chr2:178566127;178566126;178566125 | chr2:179430854;179430853;179430852 |
| Novex-2 | 17796 | 53611;53612;53613 | chr2:178566127;178566126;178566125 | chr2:179430854;179430853;179430852 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs727505214  |
0.12 | 0.993 | D | 0.375 | 0.278 | 0.381916209588 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/N | rs727505214 |
0.12 | 0.993 | D | 0.375 | 0.278 | 0.381916209588 | gnomAD-4.0.0 | 8.2111E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07945E-05 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0763 | likely_benign | 0.0809 | benign | -0.272 | Destabilizing | 0.057 | N | 0.267 | neutral | None | None | None | None | I |
| S/C | 0.0713 | likely_benign | 0.0754 | benign | -0.262 | Destabilizing | 1.0 | D | 0.493 | neutral | D | 0.526056214 | None | None | I |
| S/D | 0.8238 | likely_pathogenic | 0.8205 | pathogenic | -0.061 | Destabilizing | 0.985 | D | 0.356 | neutral | None | None | None | None | I |
| S/E | 0.8464 | likely_pathogenic | 0.8471 | pathogenic | -0.176 | Destabilizing | 0.985 | D | 0.325 | neutral | None | None | None | None | I |
| S/F | 0.3273 | likely_benign | 0.336 | benign | -1.06 | Destabilizing | 0.999 | D | 0.596 | neutral | None | None | None | None | I |
| S/G | 0.1142 | likely_benign | 0.126 | benign | -0.29 | Destabilizing | 0.835 | D | 0.372 | neutral | D | 0.527093577 | None | None | I |
| S/H | 0.5618 | ambiguous | 0.5553 | ambiguous | -0.738 | Destabilizing | 1.0 | D | 0.493 | neutral | None | None | None | None | I |
| S/I | 0.2006 | likely_benign | 0.2148 | benign | -0.349 | Destabilizing | 0.994 | D | 0.537 | neutral | N | 0.513721635 | None | None | I |
| S/K | 0.8865 | likely_pathogenic | 0.8909 | pathogenic | -0.339 | Destabilizing | 0.97 | D | 0.333 | neutral | None | None | None | None | I |
| S/L | 0.1448 | likely_benign | 0.1579 | benign | -0.349 | Destabilizing | 0.97 | D | 0.505 | neutral | None | None | None | None | I |
| S/M | 0.2591 | likely_benign | 0.2803 | benign | -0.116 | Destabilizing | 1.0 | D | 0.492 | neutral | None | None | None | None | I |
| S/N | 0.3402 | ambiguous | 0.3197 | benign | -0.076 | Destabilizing | 0.993 | D | 0.375 | neutral | D | 0.525882856 | None | None | I |
| S/P | 0.8763 | likely_pathogenic | 0.9017 | pathogenic | -0.303 | Destabilizing | 0.996 | D | 0.43 | neutral | None | None | None | None | I |
| S/Q | 0.7178 | likely_pathogenic | 0.7182 | pathogenic | -0.326 | Destabilizing | 0.999 | D | 0.389 | neutral | None | None | None | None | I |
| S/R | 0.8055 | likely_pathogenic | 0.8068 | pathogenic | -0.151 | Destabilizing | 0.994 | D | 0.438 | neutral | N | 0.491088061 | None | None | I |
| S/T | 0.136 | likely_benign | 0.1403 | benign | -0.188 | Destabilizing | 0.91 | D | 0.363 | neutral | D | 0.534846269 | None | None | I |
| S/V | 0.181 | likely_benign | 0.1933 | benign | -0.303 | Destabilizing | 0.97 | D | 0.501 | neutral | None | None | None | None | I |
| S/W | 0.5684 | likely_pathogenic | 0.6216 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| S/Y | 0.3812 | ambiguous | 0.3875 | ambiguous | -0.826 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | I |
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.