Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25547 | 76864;76865;76866 | chr2:178569493;178569492;178569491 | chr2:179434220;179434219;179434218 |
| N2AB | 23906 | 71941;71942;71943 | chr2:178569493;178569492;178569491 | chr2:179434220;179434219;179434218 |
| N2A | 22979 | 69160;69161;69162 | chr2:178569493;178569492;178569491 | chr2:179434220;179434219;179434218 |
| N2B | 16482 | 49669;49670;49671 | chr2:178569493;178569492;178569491 | chr2:179434220;179434219;179434218 |
| Novex-1 | 16607 | 50044;50045;50046 | chr2:178569493;178569492;178569491 | chr2:179434220;179434219;179434218 |
| Novex-2 | 16674 | 50245;50246;50247 | chr2:178569493;178569492;178569491 | chr2:179434220;179434219;179434218 |
| 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/M | rs1429730962  |
-0.296 | 0.002 | N | 0.248 | 0.037 | 0.0666544352282 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 8.9E-06 | 0 |
| V/M | rs1429730962 |
-0.296 | 0.002 | N | 0.248 | 0.037 | 0.0666544352282 | gnomAD-4.0.0 | 6.84674E-06 | None | None | None | None | N | None | 0 | 4.47588E-05 | None | 0 | 0 | None | 0 | 0 | 6.29978E-06 | 0 | 1.65793E-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 | 0.0832 | likely_benign | 0.0862 | benign | -0.518 | Destabilizing | None | N | 0.127 | neutral | N | 0.386943177 | None | None | N |
| V/C | 0.5875 | likely_pathogenic | 0.5863 | pathogenic | -0.652 | Destabilizing | 0.356 | N | 0.399 | neutral | None | None | None | None | N |
| V/D | 0.1978 | likely_benign | 0.1991 | benign | -0.243 | Destabilizing | None | N | 0.371 | neutral | None | None | None | None | N |
| V/E | 0.1469 | likely_benign | 0.1568 | benign | -0.355 | Destabilizing | 0.029 | N | 0.48 | neutral | N | 0.359775218 | None | None | N |
| V/F | 0.1538 | likely_benign | 0.1548 | benign | -0.709 | Destabilizing | 0.214 | N | 0.421 | neutral | None | None | None | None | N |
| V/G | 0.1258 | likely_benign | 0.1307 | benign | -0.658 | Destabilizing | 0.012 | N | 0.459 | neutral | N | 0.402024485 | None | None | N |
| V/H | 0.3716 | ambiguous | 0.3722 | ambiguous | -0.212 | Destabilizing | 0.864 | D | 0.469 | neutral | None | None | None | None | N |
| V/I | 0.075 | likely_benign | 0.0758 | benign | -0.298 | Destabilizing | 0.016 | N | 0.358 | neutral | None | None | None | None | N |
| V/K | 0.1832 | likely_benign | 0.1988 | benign | -0.45 | Destabilizing | 0.072 | N | 0.487 | neutral | None | None | None | None | N |
| V/L | 0.1107 | likely_benign | 0.1071 | benign | -0.298 | Destabilizing | 0.004 | N | 0.298 | neutral | N | 0.44851171 | None | None | N |
| V/M | 0.0735 | likely_benign | 0.0731 | benign | -0.343 | Destabilizing | 0.002 | N | 0.248 | neutral | N | 0.46242237 | None | None | N |
| V/N | 0.1415 | likely_benign | 0.1409 | benign | -0.187 | Destabilizing | 0.12 | N | 0.499 | neutral | None | None | None | None | N |
| V/P | 0.3509 | ambiguous | 0.3778 | ambiguous | -0.336 | Destabilizing | 0.356 | N | 0.475 | neutral | None | None | None | None | N |
| V/Q | 0.1676 | likely_benign | 0.1778 | benign | -0.436 | Destabilizing | 0.214 | N | 0.471 | neutral | None | None | None | None | N |
| V/R | 0.1917 | likely_benign | 0.2092 | benign | 0.073 | Stabilizing | 0.214 | N | 0.495 | neutral | None | None | None | None | N |
| V/S | 0.1126 | likely_benign | 0.1132 | benign | -0.573 | Destabilizing | 0.016 | N | 0.419 | neutral | None | None | None | None | N |
| V/T | 0.0865 | likely_benign | 0.0882 | benign | -0.583 | Destabilizing | 0.001 | N | 0.205 | neutral | None | None | None | None | N |
| V/W | 0.6169 | likely_pathogenic | 0.6223 | pathogenic | -0.779 | Destabilizing | 0.864 | D | 0.499 | neutral | None | None | None | None | N |
| V/Y | 0.3884 | ambiguous | 0.4079 | ambiguous | -0.479 | Destabilizing | 0.356 | N | 0.409 | 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.