Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22753 | 68482;68483;68484 | chr2:178578683;178578682;178578681 | chr2:179443410;179443409;179443408 |
| N2AB | 21112 | 63559;63560;63561 | chr2:178578683;178578682;178578681 | chr2:179443410;179443409;179443408 |
| N2A | 20185 | 60778;60779;60780 | chr2:178578683;178578682;178578681 | chr2:179443410;179443409;179443408 |
| N2B | 13688 | 41287;41288;41289 | chr2:178578683;178578682;178578681 | chr2:179443410;179443409;179443408 |
| Novex-1 | 13813 | 41662;41663;41664 | chr2:178578683;178578682;178578681 | chr2:179443410;179443409;179443408 |
| Novex-2 | 13880 | 41863;41864;41865 | chr2:178578683;178578682;178578681 | chr2:179443410;179443409;179443408 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.625 | N | 0.321 | 0.175 | 0.454331543959 | gnomAD-4.0.0 | 6.85055E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0003E-07 | 0 | 0 |
| V/E | None | None | 0.966 | N | 0.426 | 0.404 | 0.643200830566 | gnomAD-4.0.0 | 6.85055E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0003E-07 | 0 | 0 |
| V/L | None | None | 0.005 | N | 0.115 | 0.065 | 0.280987212366 | gnomAD-4.0.0 | 6.85103E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1664E-05 | 0 |
| V/M | None | None | 0.267 | N | 0.227 | 0.092 | 0.31411915649 | gnomAD-4.0.0 | 1.37021E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80007E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1038 | likely_benign | 0.0992 | benign | -0.571 | Destabilizing | 0.625 | D | 0.321 | neutral | N | 0.50120255 | None | None | I |
| V/C | 0.5443 | ambiguous | 0.507 | ambiguous | -0.66 | Destabilizing | 0.998 | D | 0.384 | neutral | None | None | None | None | I |
| V/D | 0.311 | likely_benign | 0.3149 | benign | -0.29 | Destabilizing | 0.974 | D | 0.477 | neutral | None | None | None | None | I |
| V/E | 0.2292 | likely_benign | 0.2378 | benign | -0.399 | Destabilizing | 0.966 | D | 0.426 | neutral | N | 0.490196122 | None | None | I |
| V/F | 0.1337 | likely_benign | 0.126 | benign | -0.749 | Destabilizing | 0.949 | D | 0.399 | neutral | None | None | None | None | I |
| V/G | 0.1566 | likely_benign | 0.151 | benign | -0.717 | Destabilizing | 0.966 | D | 0.439 | neutral | D | 0.523887408 | None | None | I |
| V/H | 0.3693 | ambiguous | 0.3431 | ambiguous | -0.266 | Destabilizing | 0.998 | D | 0.46 | neutral | None | None | None | None | I |
| V/I | 0.0684 | likely_benign | 0.0648 | benign | -0.332 | Destabilizing | 0.067 | N | 0.167 | neutral | None | None | None | None | I |
| V/K | 0.2108 | likely_benign | 0.2073 | benign | -0.489 | Destabilizing | 0.974 | D | 0.421 | neutral | None | None | None | None | I |
| V/L | 0.121 | likely_benign | 0.1121 | benign | -0.332 | Destabilizing | 0.005 | N | 0.115 | neutral | N | 0.476517536 | None | None | I |
| V/M | 0.0976 | likely_benign | 0.0891 | benign | -0.349 | Destabilizing | 0.267 | N | 0.227 | neutral | N | 0.519673667 | None | None | I |
| V/N | 0.2056 | likely_benign | 0.1836 | benign | -0.237 | Destabilizing | 0.974 | D | 0.479 | neutral | None | None | None | None | I |
| V/P | 0.6276 | likely_pathogenic | 0.6319 | pathogenic | -0.376 | Destabilizing | 0.991 | D | 0.459 | neutral | None | None | None | None | I |
| V/Q | 0.2146 | likely_benign | 0.2062 | benign | -0.483 | Destabilizing | 0.974 | D | 0.461 | neutral | None | None | None | None | I |
| V/R | 0.1842 | likely_benign | 0.187 | benign | 0.041 | Stabilizing | 0.974 | D | 0.479 | neutral | None | None | None | None | I |
| V/S | 0.1278 | likely_benign | 0.119 | benign | -0.624 | Destabilizing | 0.728 | D | 0.425 | neutral | None | None | None | None | I |
| V/T | 0.0904 | likely_benign | 0.0845 | benign | -0.63 | Destabilizing | 0.067 | N | 0.247 | neutral | None | None | None | None | I |
| V/W | 0.6012 | likely_pathogenic | 0.5808 | pathogenic | -0.823 | Destabilizing | 0.998 | D | 0.52 | neutral | None | None | None | None | I |
| V/Y | 0.3959 | ambiguous | 0.3865 | ambiguous | -0.525 | Destabilizing | 0.974 | D | 0.413 | 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.