Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15615 | 47068;47069;47070 | chr2:178618707;178618706;178618705 | chr2:179483434;179483433;179483432 |
| N2AB | 13974 | 42145;42146;42147 | chr2:178618707;178618706;178618705 | chr2:179483434;179483433;179483432 |
| N2A | 13047 | 39364;39365;39366 | chr2:178618707;178618706;178618705 | chr2:179483434;179483433;179483432 |
| N2B | 6550 | 19873;19874;19875 | chr2:178618707;178618706;178618705 | chr2:179483434;179483433;179483432 |
| Novex-1 | 6675 | 20248;20249;20250 | chr2:178618707;178618706;178618705 | chr2:179483434;179483433;179483432 |
| Novex-2 | 6742 | 20449;20450;20451 | chr2:178618707;178618706;178618705 | chr2:179483434;179483433;179483432 |
| 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 | rs781713686  |
-0.132 | 1.0 | N | 0.757 | 0.457 | 0.476445137733 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| T/I | rs781713686 |
-0.132 | 1.0 | N | 0.757 | 0.457 | 0.476445137733 | gnomAD-4.0.0 | 3.18961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86426E-06 | 1.43402E-05 | 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 | 0.1072 | likely_benign | 0.1198 | benign | -0.905 | Destabilizing | 0.999 | D | 0.528 | neutral | N | 0.503359503 | None | None | N |
| T/C | 0.4195 | ambiguous | 0.4761 | ambiguous | -0.634 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/D | 0.4151 | ambiguous | 0.4908 | ambiguous | -0.605 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/E | 0.3605 | ambiguous | 0.4013 | ambiguous | -0.613 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| T/F | 0.3085 | likely_benign | 0.361 | ambiguous | -1.146 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/G | 0.2803 | likely_benign | 0.32 | benign | -1.131 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/H | 0.32 | likely_benign | 0.3409 | ambiguous | -1.479 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| T/I | 0.178 | likely_benign | 0.2237 | benign | -0.394 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.493954935 | None | None | N |
| T/K | 0.2394 | likely_benign | 0.2692 | benign | -0.708 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| T/L | 0.1511 | likely_benign | 0.1714 | benign | -0.394 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/M | 0.1256 | likely_benign | 0.1385 | benign | 0.041 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/N | 0.145 | likely_benign | 0.1545 | benign | -0.703 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.512280469 | None | None | N |
| T/P | 0.2524 | likely_benign | 0.29 | benign | -0.534 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.507897754 | None | None | N |
| T/Q | 0.2902 | likely_benign | 0.3006 | benign | -0.977 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/R | 0.2313 | likely_benign | 0.2395 | benign | -0.427 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| T/S | 0.1315 | likely_benign | 0.1436 | benign | -0.957 | Destabilizing | 0.999 | D | 0.541 | neutral | N | 0.505881675 | None | None | N |
| T/V | 0.1397 | likely_benign | 0.1707 | benign | -0.534 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| T/W | 0.7293 | likely_pathogenic | 0.7685 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| T/Y | 0.3546 | ambiguous | 0.3861 | ambiguous | -0.793 | Destabilizing | 1.0 | D | 0.785 | deleterious | 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.