Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 30964 | 93115;93116;93117 | chr2:178548736;178548735;178548734 | chr2:179413463;179413462;179413461 |
N2AB | 29323 | 88192;88193;88194 | chr2:178548736;178548735;178548734 | chr2:179413463;179413462;179413461 |
N2A | 28396 | 85411;85412;85413 | chr2:178548736;178548735;178548734 | chr2:179413463;179413462;179413461 |
N2B | 21899 | 65920;65921;65922 | chr2:178548736;178548735;178548734 | chr2:179413463;179413462;179413461 |
Novex-1 | 22024 | 66295;66296;66297 | chr2:178548736;178548735;178548734 | chr2:179413463;179413462;179413461 |
Novex-2 | 22091 | 66496;66497;66498 | chr2:178548736;178548735;178548734 | chr2:179413463;179413462;179413461 |
Novex-3 | None | None | chr2:None | chr2:None |
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/A | rs752684712 | -0.166 | 0.005 | N | 0.243 | 0.091 | 0.220303561663 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 2.60764E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
S/A | rs752684712 | -0.166 | 0.005 | N | 0.243 | 0.091 | 0.220303561663 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
S/A | rs752684712 | -0.166 | 0.005 | N | 0.243 | 0.091 | 0.220303561663 | gnomAD-4.0.0 | 1.15302E-05 | None | None | None | None | N | None | 0 | 1.52511E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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 | 0.0764 | likely_benign | 0.0777 | benign | -0.345 | Destabilizing | 0.005 | N | 0.243 | neutral | N | 0.483652231 | None | None | N |
S/C | 0.0963 | likely_benign | 0.0949 | benign | -0.276 | Destabilizing | 0.997 | D | 0.397 | neutral | D | 0.539526944 | None | None | N |
S/D | 0.4202 | ambiguous | 0.4185 | ambiguous | 0.165 | Stabilizing | 0.915 | D | 0.364 | neutral | None | None | None | None | N |
S/E | 0.549 | ambiguous | 0.5416 | ambiguous | 0.1 | Stabilizing | 0.842 | D | 0.358 | neutral | None | None | None | None | N |
S/F | 0.2271 | likely_benign | 0.2305 | benign | -0.809 | Destabilizing | 0.966 | D | 0.482 | neutral | N | 0.520767824 | None | None | N |
S/G | 0.0772 | likely_benign | 0.0742 | benign | -0.504 | Destabilizing | 0.002 | N | 0.199 | neutral | None | None | None | None | N |
S/H | 0.3727 | ambiguous | 0.372 | ambiguous | -0.985 | Destabilizing | 0.998 | D | 0.385 | neutral | None | None | None | None | N |
S/I | 0.1515 | likely_benign | 0.1473 | benign | -0.052 | Destabilizing | 0.949 | D | 0.493 | neutral | None | None | None | None | N |
S/K | 0.6834 | likely_pathogenic | 0.6987 | pathogenic | -0.547 | Destabilizing | 0.842 | D | 0.363 | neutral | None | None | None | None | N |
S/L | 0.1102 | likely_benign | 0.111 | benign | -0.052 | Destabilizing | 0.842 | D | 0.437 | neutral | None | None | None | None | N |
S/M | 0.1897 | likely_benign | 0.1855 | benign | 0.038 | Stabilizing | 0.998 | D | 0.383 | neutral | None | None | None | None | N |
S/N | 0.1409 | likely_benign | 0.1367 | benign | -0.295 | Destabilizing | 0.915 | D | 0.442 | neutral | None | None | None | None | N |
S/P | 0.6846 | likely_pathogenic | 0.659 | pathogenic | -0.118 | Destabilizing | 0.966 | D | 0.385 | neutral | N | 0.509550753 | None | None | N |
S/Q | 0.5025 | ambiguous | 0.4974 | ambiguous | -0.463 | Destabilizing | 0.974 | D | 0.399 | neutral | None | None | None | None | N |
S/R | 0.6005 | likely_pathogenic | 0.6143 | pathogenic | -0.387 | Destabilizing | 0.974 | D | 0.39 | neutral | None | None | None | None | N |
S/T | 0.0744 | likely_benign | 0.0731 | benign | -0.349 | Destabilizing | 0.801 | D | 0.428 | neutral | N | 0.452753321 | None | None | N |
S/V | 0.1466 | likely_benign | 0.143 | benign | -0.118 | Destabilizing | 0.728 | D | 0.445 | neutral | None | None | None | None | N |
S/W | 0.4303 | ambiguous | 0.4157 | ambiguous | -0.856 | Destabilizing | 0.998 | D | 0.531 | neutral | None | None | None | None | N |
S/Y | 0.2157 | likely_benign | 0.2095 | benign | -0.567 | Destabilizing | 0.989 | D | 0.479 | neutral | D | 0.539353585 | 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.