Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3895 | 11908;11909;11910 | chr2:178741550;178741549;178741548 | chr2:179606277;179606276;179606275 |
| N2AB | 3578 | 10957;10958;10959 | chr2:178741550;178741549;178741548 | chr2:179606277;179606276;179606275 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3532 | 10819;10820;10821 | chr2:178741550;178741549;178741548 | chr2:179606277;179606276;179606275 |
| Novex-1 | 3657 | 11194;11195;11196 | chr2:178741550;178741549;178741548 | chr2:179606277;179606276;179606275 |
| Novex-2 | 3724 | 11395;11396;11397 | chr2:178741550;178741549;178741548 | chr2:179606277;179606276;179606275 |
| 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/C | rs772765158  |
-0.508 | 0.997 | D | 0.508 | 0.409 | None | 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/C | rs772765158 |
-0.508 | 0.997 | D | 0.508 | 0.409 | None | gnomAD-4.0.0 | 4.77351E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57398E-06 | 0 | 0 |
| S/N | rs769466475 |
-1.102 | 0.012 | D | 0.216 | 0.192 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/N | rs769466475 |
-1.102 | 0.012 | D | 0.216 | 0.192 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs769466475 |
-1.102 | 0.012 | D | 0.216 | 0.192 | None | gnomAD-4.0.0 | 2.85052E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.72939E-05 | 0 | 3.20215E-05 |
| S/T | None | None | 0.051 | N | 0.187 | 0.114 | None | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7989E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1072 | likely_benign | 0.1048 | benign | -0.58 | Destabilizing | 0.688 | D | 0.458 | neutral | None | None | None | None | I |
| S/C | 0.1179 | likely_benign | 0.1282 | benign | -0.566 | Destabilizing | 0.997 | D | 0.508 | neutral | D | 0.627168469 | None | None | I |
| S/D | 0.4346 | ambiguous | 0.4203 | ambiguous | -1.277 | Destabilizing | 0.728 | D | 0.525 | neutral | None | None | None | None | I |
| S/E | 0.4424 | ambiguous | 0.443 | ambiguous | -1.235 | Destabilizing | 0.842 | D | 0.525 | neutral | None | None | None | None | I |
| S/F | 0.2073 | likely_benign | 0.1873 | benign | -0.616 | Destabilizing | 0.949 | D | 0.592 | neutral | None | None | None | None | I |
| S/G | 0.1326 | likely_benign | 0.1237 | benign | -0.872 | Destabilizing | 0.625 | D | 0.48 | neutral | N | 0.503842155 | None | None | I |
| S/H | 0.3278 | likely_benign | 0.3306 | benign | -1.407 | Destabilizing | 0.974 | D | 0.523 | neutral | None | None | None | None | I |
| S/I | 0.1658 | likely_benign | 0.1588 | benign | 0.104 | Stabilizing | 0.012 | N | 0.464 | neutral | N | 0.513651934 | None | None | I |
| S/K | 0.5687 | likely_pathogenic | 0.5639 | ambiguous | -0.91 | Destabilizing | 0.842 | D | 0.527 | neutral | None | None | None | None | I |
| S/L | 0.1367 | likely_benign | 0.1239 | benign | 0.104 | Stabilizing | 0.525 | D | 0.555 | neutral | None | None | None | None | I |
| S/M | 0.2362 | likely_benign | 0.235 | benign | 0.384 | Stabilizing | 0.949 | D | 0.523 | neutral | None | None | None | None | I |
| S/N | 0.1489 | likely_benign | 0.1441 | benign | -1.118 | Destabilizing | 0.012 | N | 0.216 | neutral | D | 0.551950384 | None | None | I |
| S/P | 0.9052 | likely_pathogenic | 0.9071 | pathogenic | -0.089 | Destabilizing | 0.974 | D | 0.52 | neutral | None | None | None | None | I |
| S/Q | 0.4362 | ambiguous | 0.4557 | ambiguous | -1.219 | Destabilizing | 0.974 | D | 0.581 | neutral | None | None | None | None | I |
| S/R | 0.3881 | ambiguous | 0.3932 | ambiguous | -0.829 | Destabilizing | 0.934 | D | 0.519 | neutral | N | 0.493243305 | None | None | I |
| S/T | 0.0948 | likely_benign | 0.0924 | benign | -0.924 | Destabilizing | 0.051 | N | 0.187 | neutral | N | 0.490549507 | None | None | I |
| S/V | 0.2061 | likely_benign | 0.2019 | benign | -0.089 | Destabilizing | 0.525 | D | 0.551 | neutral | None | None | None | None | I |
| S/W | 0.3272 | likely_benign | 0.3261 | benign | -0.73 | Destabilizing | 0.998 | D | 0.649 | neutral | None | None | None | None | I |
| S/Y | 0.1869 | likely_benign | 0.1773 | benign | -0.413 | Destabilizing | 0.991 | D | 0.587 | 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.