Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16034 | 48325;48326;48327 | chr2:178616789;178616788;178616787 | chr2:179481516;179481515;179481514 |
| N2AB | 14393 | 43402;43403;43404 | chr2:178616789;178616788;178616787 | chr2:179481516;179481515;179481514 |
| N2A | 13466 | 40621;40622;40623 | chr2:178616789;178616788;178616787 | chr2:179481516;179481515;179481514 |
| N2B | 6969 | 21130;21131;21132 | chr2:178616789;178616788;178616787 | chr2:179481516;179481515;179481514 |
| Novex-1 | 7094 | 21505;21506;21507 | chr2:178616789;178616788;178616787 | chr2:179481516;179481515;179481514 |
| Novex-2 | 7161 | 21706;21707;21708 | chr2:178616789;178616788;178616787 | chr2:179481516;179481515;179481514 |
| 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/I | rs1247903486  |
0.287 | 0.82 | D | 0.621 | 0.196 | 0.365509141856 | gnomAD-2.1.1 | 7.67E-05 | None | None | None | None | N | None | 0 | 5.51332E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1247903486 |
0.287 | 0.82 | D | 0.621 | 0.196 | 0.365509141856 | gnomAD-3.1.2 | 1.90938E-04 | None | None | None | None | N | None | 0 | 1.90489E-03 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1247903486 |
0.287 | 0.82 | D | 0.621 | 0.196 | 0.365509141856 | gnomAD-4.0.0 | 6.02951E-05 | None | None | None | None | N | None | 0 | 7.97611E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | None | 0.722 | N | 0.595 | 0.253 | 0.346768085243 | gnomAD-4.0.0 | 1.59333E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86223E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1397 | likely_benign | 0.1371 | benign | -1.249 | Destabilizing | 0.349 | N | 0.549 | neutral | D | 0.587668304 | None | None | N |
| T/C | 0.422 | ambiguous | 0.4189 | ambiguous | -0.933 | Destabilizing | 0.996 | D | 0.643 | neutral | None | None | None | None | N |
| T/D | 0.6632 | likely_pathogenic | 0.6748 | pathogenic | -0.796 | Destabilizing | 0.923 | D | 0.624 | neutral | None | None | None | None | N |
| T/E | 0.4085 | ambiguous | 0.3983 | ambiguous | -0.683 | Destabilizing | 0.775 | D | 0.597 | neutral | None | None | None | None | N |
| T/F | 0.295 | likely_benign | 0.3038 | benign | -1.145 | Destabilizing | 0.858 | D | 0.634 | neutral | None | None | None | None | N |
| T/G | 0.4301 | ambiguous | 0.4392 | ambiguous | -1.596 | Destabilizing | 0.775 | D | 0.609 | neutral | None | None | None | None | N |
| T/H | 0.245 | likely_benign | 0.2299 | benign | -1.749 | Destabilizing | 0.979 | D | 0.692 | prob.neutral | None | None | None | None | N |
| T/I | 0.1716 | likely_benign | 0.168 | benign | -0.371 | Destabilizing | 0.82 | D | 0.621 | neutral | D | 0.522060612 | None | None | N |
| T/K | 0.2062 | likely_benign | 0.1885 | benign | -0.603 | Destabilizing | 0.722 | D | 0.595 | neutral | N | 0.456656797 | None | None | N |
| T/L | 0.1321 | likely_benign | 0.137 | benign | -0.371 | Destabilizing | 0.197 | N | 0.579 | neutral | None | None | None | None | N |
| T/M | 0.1281 | likely_benign | 0.1219 | benign | -0.184 | Destabilizing | 0.197 | N | 0.527 | neutral | None | None | None | None | N |
| T/N | 0.2082 | likely_benign | 0.2114 | benign | -0.947 | Destabilizing | 0.923 | D | 0.548 | neutral | None | None | None | None | N |
| T/P | 0.7813 | likely_pathogenic | 0.7986 | pathogenic | -0.632 | Destabilizing | 0.949 | D | 0.655 | neutral | D | 0.590197655 | None | None | N |
| T/Q | 0.2677 | likely_benign | 0.2452 | benign | -0.961 | Destabilizing | 0.961 | D | 0.655 | neutral | None | None | None | None | N |
| T/R | 0.1669 | likely_benign | 0.1558 | benign | -0.586 | Destabilizing | 0.901 | D | 0.655 | neutral | N | 0.455979481 | None | None | N |
| T/S | 0.1525 | likely_benign | 0.1547 | benign | -1.298 | Destabilizing | 0.092 | N | 0.468 | neutral | N | 0.448084441 | None | None | N |
| T/V | 0.1556 | likely_benign | 0.1566 | benign | -0.632 | Destabilizing | 0.633 | D | 0.544 | neutral | None | None | None | None | N |
| T/W | 0.6591 | likely_pathogenic | 0.6543 | pathogenic | -1.079 | Destabilizing | 0.989 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2984 | likely_benign | 0.3049 | benign | -0.788 | Destabilizing | 0.024 | N | 0.516 | 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.