Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26627 | 80104;80105;80106 | chr2:178566253;178566252;178566251 | chr2:179430980;179430979;179430978 |
| N2AB | 24986 | 75181;75182;75183 | chr2:178566253;178566252;178566251 | chr2:179430980;179430979;179430978 |
| N2A | 24059 | 72400;72401;72402 | chr2:178566253;178566252;178566251 | chr2:179430980;179430979;179430978 |
| N2B | 17562 | 52909;52910;52911 | chr2:178566253;178566252;178566251 | chr2:179430980;179430979;179430978 |
| Novex-1 | 17687 | 53284;53285;53286 | chr2:178566253;178566252;178566251 | chr2:179430980;179430979;179430978 |
| Novex-2 | 17754 | 53485;53486;53487 | chr2:178566253;178566252;178566251 | chr2:179430980;179430979;179430978 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.994 | N | 0.553 | 0.321 | 0.302459207581 | gnomAD-4.0.0 | 6.8425E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 0 | 0 |
| S/F | rs1478761282  |
-0.777 | 0.884 | N | 0.599 | 0.192 | 0.404733080969 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-06 | 1.40252E-04 |
| S/F | rs1478761282 |
-0.777 | 0.884 | N | 0.599 | 0.192 | 0.404733080969 | 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 |
| S/F | rs1478761282 |
-0.777 | 0.884 | N | 0.599 | 0.192 | 0.404733080969 | gnomAD-4.0.0 | 2.47901E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64528E-04 | 1.69531E-06 | 0 | 1.60133E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0877 | likely_benign | 0.0878 | benign | -0.582 | Destabilizing | 0.012 | N | 0.153 | neutral | N | 0.507039939 | None | None | N |
| S/C | 0.0876 | likely_benign | 0.0881 | benign | -0.193 | Destabilizing | 0.994 | D | 0.553 | neutral | N | 0.469757444 | None | None | N |
| S/D | 0.4136 | ambiguous | 0.3734 | ambiguous | 0.245 | Stabilizing | 0.742 | D | 0.458 | neutral | None | None | None | None | N |
| S/E | 0.3891 | ambiguous | 0.3565 | ambiguous | 0.346 | Stabilizing | 0.59 | D | 0.451 | neutral | None | None | None | None | N |
| S/F | 0.1409 | likely_benign | 0.1281 | benign | -0.771 | Destabilizing | 0.884 | D | 0.599 | neutral | N | 0.482101422 | None | None | N |
| S/G | 0.0941 | likely_benign | 0.0934 | benign | -0.892 | Destabilizing | 0.543 | D | 0.452 | neutral | None | None | None | None | N |
| S/H | 0.252 | likely_benign | 0.2298 | benign | -1.097 | Destabilizing | 0.953 | D | 0.553 | neutral | None | None | None | None | N |
| S/I | 0.1291 | likely_benign | 0.1208 | benign | 0.163 | Stabilizing | 0.59 | D | 0.571 | neutral | None | None | None | None | N |
| S/K | 0.5009 | ambiguous | 0.4762 | ambiguous | 0.188 | Stabilizing | 0.009 | N | 0.197 | neutral | None | None | None | None | N |
| S/L | 0.0863 | likely_benign | 0.0816 | benign | 0.163 | Stabilizing | 0.009 | N | 0.343 | neutral | None | None | None | None | N |
| S/M | 0.1282 | likely_benign | 0.1295 | benign | 0.064 | Stabilizing | 0.91 | D | 0.569 | neutral | None | None | None | None | N |
| S/N | 0.1136 | likely_benign | 0.1125 | benign | -0.17 | Destabilizing | 0.742 | D | 0.492 | neutral | None | None | None | None | N |
| S/P | 0.9537 | likely_pathogenic | 0.9447 | pathogenic | -0.051 | Destabilizing | 0.815 | D | 0.571 | neutral | N | 0.47608732 | None | None | N |
| S/Q | 0.3367 | likely_benign | 0.3201 | benign | -0.063 | Destabilizing | 0.91 | D | 0.525 | neutral | None | None | None | None | N |
| S/R | 0.4532 | ambiguous | 0.4254 | ambiguous | 0.009 | Stabilizing | 0.59 | D | 0.539 | neutral | None | None | None | None | N |
| S/T | 0.0675 | likely_benign | 0.0669 | benign | -0.131 | Destabilizing | 0.028 | N | 0.174 | neutral | N | 0.426538928 | None | None | N |
| S/V | 0.1456 | likely_benign | 0.1386 | benign | -0.051 | Destabilizing | 0.373 | N | 0.531 | neutral | None | None | None | None | N |
| S/W | 0.2975 | likely_benign | 0.2599 | benign | -0.85 | Destabilizing | 0.996 | D | 0.643 | neutral | None | None | None | None | N |
| S/Y | 0.1562 | likely_benign | 0.1432 | benign | -0.435 | Destabilizing | 0.979 | D | 0.593 | neutral | N | 0.476079527 | 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.