Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31474 | 94645;94646;94647 | chr2:178547105;178547104;178547103 | chr2:179411832;179411831;179411830 |
| N2AB | 29833 | 89722;89723;89724 | chr2:178547105;178547104;178547103 | chr2:179411832;179411831;179411830 |
| N2A | 28906 | 86941;86942;86943 | chr2:178547105;178547104;178547103 | chr2:179411832;179411831;179411830 |
| N2B | 22409 | 67450;67451;67452 | chr2:178547105;178547104;178547103 | chr2:179411832;179411831;179411830 |
| Novex-1 | 22534 | 67825;67826;67827 | chr2:178547105;178547104;178547103 | chr2:179411832;179411831;179411830 |
| Novex-2 | 22601 | 68026;68027;68028 | chr2:178547105;178547104;178547103 | chr2:179411832;179411831;179411830 |
| 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 | rs1401860835  |
-1.051 | 0.429 | N | 0.387 | 0.239 | 0.540016403455 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1401860835 |
-1.051 | 0.429 | N | 0.387 | 0.239 | 0.540016403455 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1410759884 |
-0.283 | 0.002 | N | 0.155 | 0.094 | 0.336155897331 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1410759884 |
-0.283 | 0.002 | N | 0.155 | 0.094 | 0.336155897331 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1410759884 |
-0.283 | 0.002 | N | 0.155 | 0.094 | 0.336155897331 | gnomAD-4.0.0 | 3.84307E-06 | None | None | None | None | N | None | 5.0734E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2397 | likely_benign | 0.2584 | benign | -1.026 | Destabilizing | 0.429 | N | 0.387 | neutral | N | 0.476074819 | None | None | N |
| V/C | 0.8583 | likely_pathogenic | 0.8509 | pathogenic | -0.782 | Destabilizing | 0.995 | D | 0.582 | neutral | None | None | None | None | N |
| V/D | 0.7223 | likely_pathogenic | 0.7664 | pathogenic | -0.511 | Destabilizing | 0.945 | D | 0.741 | deleterious | None | None | None | None | N |
| V/E | 0.5447 | ambiguous | 0.5861 | pathogenic | -0.527 | Destabilizing | 0.975 | D | 0.689 | prob.neutral | N | 0.451984451 | None | None | N |
| V/F | 0.3363 | likely_benign | 0.3627 | ambiguous | -0.793 | Destabilizing | 0.894 | D | 0.589 | neutral | None | None | None | None | N |
| V/G | 0.452 | ambiguous | 0.4777 | ambiguous | -1.295 | Destabilizing | 0.928 | D | 0.737 | prob.delet. | N | 0.482231338 | None | None | N |
| V/H | 0.8147 | likely_pathogenic | 0.8364 | pathogenic | -0.648 | Destabilizing | 0.995 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/I | 0.0871 | likely_benign | 0.0887 | benign | -0.412 | Destabilizing | 0.002 | N | 0.155 | neutral | N | 0.376836118 | None | None | N |
| V/K | 0.7179 | likely_pathogenic | 0.7412 | pathogenic | -0.764 | Destabilizing | 0.945 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/L | 0.2528 | likely_benign | 0.2446 | benign | -0.412 | Destabilizing | 0.114 | N | 0.333 | neutral | N | 0.467377978 | None | None | N |
| V/M | 0.1726 | likely_benign | 0.1849 | benign | -0.462 | Destabilizing | 0.894 | D | 0.519 | neutral | None | None | None | None | N |
| V/N | 0.5464 | ambiguous | 0.5843 | pathogenic | -0.618 | Destabilizing | 0.981 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/P | 0.9018 | likely_pathogenic | 0.8612 | pathogenic | -0.581 | Destabilizing | 0.981 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/Q | 0.5255 | ambiguous | 0.5389 | ambiguous | -0.759 | Destabilizing | 0.981 | D | 0.686 | prob.neutral | None | None | None | None | N |
| V/R | 0.651 | likely_pathogenic | 0.6706 | pathogenic | -0.27 | Destabilizing | 0.945 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/S | 0.3415 | ambiguous | 0.3725 | ambiguous | -1.135 | Destabilizing | 0.945 | D | 0.627 | neutral | None | None | None | None | N |
| V/T | 0.1939 | likely_benign | 0.2194 | benign | -1.032 | Destabilizing | 0.707 | D | 0.407 | neutral | None | None | None | None | N |
| V/W | 0.9263 | likely_pathogenic | 0.9316 | pathogenic | -0.924 | Destabilizing | 0.995 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/Y | 0.7861 | likely_pathogenic | 0.8018 | pathogenic | -0.619 | Destabilizing | 0.945 | D | 0.585 | 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.