Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32541 | 97846;97847;97848 | chr2:178541456;178541455;178541454 | chr2:179406183;179406182;179406181 |
| N2AB | 30900 | 92923;92924;92925 | chr2:178541456;178541455;178541454 | chr2:179406183;179406182;179406181 |
| N2A | 29973 | 90142;90143;90144 | chr2:178541456;178541455;178541454 | chr2:179406183;179406182;179406181 |
| N2B | 23476 | 70651;70652;70653 | chr2:178541456;178541455;178541454 | chr2:179406183;179406182;179406181 |
| Novex-1 | 23601 | 71026;71027;71028 | chr2:178541456;178541455;178541454 | chr2:179406183;179406182;179406181 |
| Novex-2 | 23668 | 71227;71228;71229 | chr2:178541456;178541455;178541454 | chr2:179406183;179406182;179406181 |
| 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/L | rs771198352  |
-0.265 | 0.91 | N | 0.406 | 0.138 | 0.545696997403 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65893E-04 |
| V/L | rs771198352 |
-0.265 | 0.91 | N | 0.406 | 0.138 | 0.545696997403 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs771198352 |
-0.265 | 0.91 | N | 0.406 | 0.138 | 0.545696997403 | gnomAD-4.0.0 | 4.33863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.9341E-06 | 0 | 0 |
| V/M | rs771198352 |
-0.395 | 0.998 | N | 0.456 | 0.204 | 0.599423059063 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/M | rs771198352 |
-0.395 | 0.998 | N | 0.456 | 0.204 | 0.599423059063 | gnomAD-4.0.0 | 5.47474E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29725E-06 | 0 | 1.65728E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1523 | likely_benign | 0.1611 | benign | -1.616 | Destabilizing | 0.122 | N | 0.217 | neutral | N | 0.437172501 | None | None | N |
| V/C | 0.6885 | likely_pathogenic | 0.6657 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.479 | neutral | None | None | None | None | N |
| V/D | 0.4408 | ambiguous | 0.4957 | ambiguous | -1.71 | Destabilizing | 0.996 | D | 0.653 | neutral | None | None | None | None | N |
| V/E | 0.3209 | likely_benign | 0.3498 | ambiguous | -1.72 | Destabilizing | 0.994 | D | 0.556 | neutral | N | 0.453526033 | None | None | N |
| V/F | 0.2186 | likely_benign | 0.241 | benign | -1.285 | Destabilizing | 0.999 | D | 0.469 | neutral | None | None | None | None | N |
| V/G | 0.1654 | likely_benign | 0.1846 | benign | -1.917 | Destabilizing | 0.925 | D | 0.591 | neutral | N | 0.476000248 | None | None | N |
| V/H | 0.6115 | likely_pathogenic | 0.6213 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| V/I | 0.0893 | likely_benign | 0.0886 | benign | -0.886 | Destabilizing | 0.965 | D | 0.407 | neutral | None | None | None | None | N |
| V/K | 0.3007 | likely_benign | 0.3081 | benign | -1.395 | Destabilizing | 0.991 | D | 0.56 | neutral | None | None | None | None | N |
| V/L | 0.2215 | likely_benign | 0.2252 | benign | -0.886 | Destabilizing | 0.91 | D | 0.406 | neutral | N | 0.46984228 | None | None | N |
| V/M | 0.1604 | likely_benign | 0.1649 | benign | -0.581 | Destabilizing | 0.998 | D | 0.456 | neutral | N | 0.485062448 | None | None | N |
| V/N | 0.2889 | likely_benign | 0.3047 | benign | -1.17 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| V/P | 0.4365 | ambiguous | 0.4635 | ambiguous | -1.096 | Destabilizing | 0.996 | D | 0.625 | neutral | None | None | None | None | N |
| V/Q | 0.312 | likely_benign | 0.3264 | benign | -1.384 | Destabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | N |
| V/R | 0.2621 | likely_benign | 0.2851 | benign | -0.778 | Destabilizing | 0.996 | D | 0.655 | neutral | None | None | None | None | N |
| V/S | 0.2057 | likely_benign | 0.2129 | benign | -1.627 | Destabilizing | 0.942 | D | 0.567 | neutral | None | None | None | None | N |
| V/T | 0.173 | likely_benign | 0.1713 | benign | -1.544 | Destabilizing | 0.97 | D | 0.421 | neutral | None | None | None | None | N |
| V/W | 0.7937 | likely_pathogenic | 0.8121 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/Y | 0.5444 | ambiguous | 0.5678 | pathogenic | -1.227 | Destabilizing | 0.999 | D | 0.467 | 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.