Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19046 | 57361;57362;57363 | chr2:178598034;178598033;178598032 | chr2:179462761;179462760;179462759 |
| N2AB | 17405 | 52438;52439;52440 | chr2:178598034;178598033;178598032 | chr2:179462761;179462760;179462759 |
| N2A | 16478 | 49657;49658;49659 | chr2:178598034;178598033;178598032 | chr2:179462761;179462760;179462759 |
| N2B | 9981 | 30166;30167;30168 | chr2:178598034;178598033;178598032 | chr2:179462761;179462760;179462759 |
| Novex-1 | 10106 | 30541;30542;30543 | chr2:178598034;178598033;178598032 | chr2:179462761;179462760;179462759 |
| Novex-2 | 10173 | 30742;30743;30744 | chr2:178598034;178598033;178598032 | chr2:179462761;179462760;179462759 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1177930416  |
-0.711 | 0.349 | N | 0.417 | 0.249 | 0.210429274316 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/A | rs1177930416 |
-0.711 | 0.349 | N | 0.417 | 0.249 | 0.210429274316 | gnomAD-4.0.0 | 1.3691E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73792E-04 | 8.99706E-07 | 0 | 0 |
| T/I | rs1039868345 |
None | 0.82 | N | 0.605 | 0.505 | 0.56542871222 | gnomAD-4.0.0 | 1.59307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86056E-06 | 0 | 0 |
| T/R | rs1039868345 |
None | 0.949 | N | 0.635 | 0.409 | 0.677692543746 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1385 | likely_benign | 0.1437 | benign | -0.748 | Destabilizing | 0.349 | N | 0.417 | neutral | N | 0.484450291 | None | None | N |
| T/C | 0.2697 | likely_benign | 0.2382 | benign | -0.474 | Destabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | N |
| T/D | 0.5938 | likely_pathogenic | 0.5926 | pathogenic | -0.402 | Destabilizing | 0.923 | D | 0.609 | neutral | None | None | None | None | N |
| T/E | 0.4781 | ambiguous | 0.4796 | ambiguous | -0.266 | Destabilizing | 0.923 | D | 0.609 | neutral | None | None | None | None | N |
| T/F | 0.4458 | ambiguous | 0.4503 | ambiguous | -0.675 | Destabilizing | 0.923 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/G | 0.2909 | likely_benign | 0.2874 | benign | -1.099 | Destabilizing | 0.923 | D | 0.623 | neutral | None | None | None | None | N |
| T/H | 0.3387 | likely_benign | 0.3439 | ambiguous | -1.16 | Destabilizing | 0.996 | D | 0.684 | prob.neutral | None | None | None | None | N |
| T/I | 0.3855 | ambiguous | 0.392 | ambiguous | 0.136 | Stabilizing | 0.82 | D | 0.605 | neutral | N | 0.5030123 | None | None | N |
| T/K | 0.2329 | likely_benign | 0.221 | benign | -0.26 | Destabilizing | 0.901 | D | 0.606 | neutral | D | 0.523716837 | None | None | N |
| T/L | 0.1139 | likely_benign | 0.1114 | benign | 0.136 | Stabilizing | 0.011 | N | 0.358 | neutral | None | None | None | None | N |
| T/M | 0.0966 | likely_benign | 0.0948 | benign | -0.017 | Destabilizing | 0.979 | D | 0.659 | neutral | None | None | None | None | N |
| T/N | 0.1061 | likely_benign | 0.1058 | benign | -0.718 | Destabilizing | 0.961 | D | 0.547 | neutral | None | None | None | None | N |
| T/P | 0.1573 | likely_benign | 0.1647 | benign | -0.126 | Destabilizing | 0.008 | N | 0.379 | neutral | D | 0.522041969 | None | None | N |
| T/Q | 0.2368 | likely_benign | 0.2346 | benign | -0.576 | Destabilizing | 0.961 | D | 0.653 | neutral | None | None | None | None | N |
| T/R | 0.2038 | likely_benign | 0.1802 | benign | -0.319 | Destabilizing | 0.949 | D | 0.635 | neutral | N | 0.480619421 | None | None | N |
| T/S | 0.1572 | likely_benign | 0.1673 | benign | -1.007 | Destabilizing | 0.722 | D | 0.421 | neutral | N | 0.477066777 | None | None | N |
| T/V | 0.2532 | likely_benign | 0.2533 | benign | -0.126 | Destabilizing | 0.633 | D | 0.414 | neutral | None | None | None | None | N |
| T/W | 0.7698 | likely_pathogenic | 0.7586 | pathogenic | -0.788 | Destabilizing | 0.996 | D | 0.664 | neutral | None | None | None | None | N |
| T/Y | 0.447 | ambiguous | 0.4264 | ambiguous | -0.398 | Destabilizing | 0.987 | D | 0.685 | prob.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.