Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29404 | 88435;88436;88437 | chr2:178556944;178556943;178556942 | chr2:179421671;179421670;179421669 |
| N2AB | 27763 | 83512;83513;83514 | chr2:178556944;178556943;178556942 | chr2:179421671;179421670;179421669 |
| N2A | 26836 | 80731;80732;80733 | chr2:178556944;178556943;178556942 | chr2:179421671;179421670;179421669 |
| N2B | 20339 | 61240;61241;61242 | chr2:178556944;178556943;178556942 | chr2:179421671;179421670;179421669 |
| Novex-1 | 20464 | 61615;61616;61617 | chr2:178556944;178556943;178556942 | chr2:179421671;179421670;179421669 |
| Novex-2 | 20531 | 61816;61817;61818 | chr2:178556944;178556943;178556942 | chr2:179421671;179421670;179421669 |
| 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/F | rs1701741272  |
None | 0.484 | D | 0.441 | 0.294 | 0.611395899168 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1701741272 |
None | 0.484 | D | 0.441 | 0.294 | 0.611395899168 | gnomAD-4.0.0 | 6.57186E-06 | None | None | None | None | N | None | 2.41359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | None | None | 0.484 | N | 0.443 | 0.289 | 0.61771375628 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31868E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.073 | likely_benign | 0.0686 | benign | -0.766 | Destabilizing | None | N | 0.091 | neutral | N | 0.459990646 | None | None | N |
| S/C | 0.0808 | likely_benign | 0.0741 | benign | -0.602 | Destabilizing | 0.78 | D | 0.395 | neutral | N | 0.462166946 | None | None | N |
| S/D | 0.3721 | ambiguous | 0.3206 | benign | -0.841 | Destabilizing | 0.035 | N | 0.327 | neutral | None | None | None | None | N |
| S/E | 0.4202 | ambiguous | 0.3917 | ambiguous | -0.827 | Destabilizing | None | N | 0.082 | neutral | None | None | None | None | N |
| S/F | 0.217 | likely_benign | 0.1779 | benign | -0.911 | Destabilizing | 0.484 | N | 0.441 | neutral | D | 0.52429284 | None | None | N |
| S/G | 0.0915 | likely_benign | 0.0826 | benign | -1.033 | Destabilizing | 0.035 | N | 0.317 | neutral | None | None | None | None | N |
| S/H | 0.2738 | likely_benign | 0.2454 | benign | -1.532 | Destabilizing | 0.791 | D | 0.409 | neutral | None | None | None | None | N |
| S/I | 0.2135 | likely_benign | 0.1722 | benign | -0.157 | Destabilizing | 0.38 | N | 0.439 | neutral | None | None | None | None | N |
| S/K | 0.5317 | ambiguous | 0.4513 | ambiguous | -0.894 | Destabilizing | 0.067 | N | 0.315 | neutral | None | None | None | None | N |
| S/L | 0.1079 | likely_benign | 0.0931 | benign | -0.157 | Destabilizing | 0.081 | N | 0.377 | neutral | None | None | None | None | N |
| S/M | 0.1733 | likely_benign | 0.1605 | benign | 0.18 | Stabilizing | 0.824 | D | 0.399 | neutral | None | None | None | None | N |
| S/N | 0.1305 | likely_benign | 0.1186 | benign | -0.967 | Destabilizing | 0.262 | N | 0.414 | neutral | None | None | None | None | N |
| S/P | 0.9307 | likely_pathogenic | 0.9008 | pathogenic | -0.326 | Destabilizing | 0.317 | N | 0.399 | neutral | N | 0.484423838 | None | None | N |
| S/Q | 0.3342 | likely_benign | 0.3193 | benign | -1.121 | Destabilizing | 0.149 | N | 0.428 | neutral | None | None | None | None | N |
| S/R | 0.4571 | ambiguous | 0.3802 | ambiguous | -0.752 | Destabilizing | 0.149 | N | 0.395 | neutral | None | None | None | None | N |
| S/T | 0.0935 | likely_benign | 0.0839 | benign | -0.892 | Destabilizing | 0.062 | N | 0.357 | neutral | N | 0.368536348 | None | None | N |
| S/V | 0.189 | likely_benign | 0.1633 | benign | -0.326 | Destabilizing | 0.081 | N | 0.383 | neutral | None | None | None | None | N |
| S/W | 0.4185 | ambiguous | 0.3523 | ambiguous | -0.925 | Destabilizing | 0.935 | D | 0.561 | neutral | None | None | None | None | N |
| S/Y | 0.1818 | likely_benign | 0.1557 | benign | -0.65 | Destabilizing | 0.484 | N | 0.443 | neutral | N | 0.473067532 | 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.