Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 35751 | 107476;107477;107478 | chr2:178528400;178528399;178528398 | chr2:179393127;179393126;179393125 |
N2AB | 34110 | 102553;102554;102555 | chr2:178528400;178528399;178528398 | chr2:179393127;179393126;179393125 |
N2A | 33183 | 99772;99773;99774 | chr2:178528400;178528399;178528398 | chr2:179393127;179393126;179393125 |
N2B | 26686 | 80281;80282;80283 | chr2:178528400;178528399;178528398 | chr2:179393127;179393126;179393125 |
Novex-1 | 26811 | 80656;80657;80658 | chr2:178528400;178528399;178528398 | chr2:179393127;179393126;179393125 |
Novex-2 | 26878 | 80857;80858;80859 | chr2:178528400;178528399;178528398 | chr2:179393127;179393126;179393125 |
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/R | None | None | 0.009 | N | 0.187 | 0.191 | 0.126345400529 | gnomAD-4.0.0 | 1.59141E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02371E-05 |
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 | 0.1231 | likely_benign | 0.1146 | benign | -0.462 | Destabilizing | 0.25 | N | 0.315 | neutral | None | None | None | None | I |
S/C | 0.2094 | likely_benign | 0.2164 | benign | -0.281 | Destabilizing | 0.99 | D | 0.409 | neutral | N | 0.500179868 | None | None | I |
S/D | 0.4405 | ambiguous | 0.4415 | ambiguous | 0.365 | Stabilizing | 0.447 | N | 0.256 | neutral | None | None | None | None | I |
S/E | 0.5546 | ambiguous | 0.5314 | ambiguous | 0.289 | Stabilizing | 0.617 | D | 0.26 | neutral | None | None | None | None | I |
S/F | 0.2386 | likely_benign | 0.1975 | benign | -0.979 | Destabilizing | 0.92 | D | 0.481 | neutral | None | None | None | None | I |
S/G | 0.1154 | likely_benign | 0.1235 | benign | -0.6 | Destabilizing | 0.004 | N | 0.095 | neutral | N | 0.497677534 | None | None | I |
S/H | 0.292 | likely_benign | 0.295 | benign | -1.06 | Destabilizing | 0.85 | D | 0.397 | neutral | None | None | None | None | I |
S/I | 0.1686 | likely_benign | 0.1677 | benign | -0.223 | Destabilizing | 0.81 | D | 0.476 | neutral | N | 0.458255141 | None | None | I |
S/K | 0.6017 | likely_pathogenic | 0.5885 | pathogenic | -0.409 | Destabilizing | 0.447 | N | 0.279 | neutral | None | None | None | None | I |
S/L | 0.1431 | likely_benign | 0.1274 | benign | -0.223 | Destabilizing | 0.447 | N | 0.412 | neutral | None | None | None | None | I |
S/M | 0.2644 | likely_benign | 0.2619 | benign | -0.025 | Destabilizing | 0.992 | D | 0.387 | neutral | None | None | None | None | I |
S/N | 0.1231 | likely_benign | 0.133 | benign | -0.143 | Destabilizing | 0.004 | N | 0.098 | neutral | N | 0.482342722 | None | None | I |
S/P | 0.8615 | likely_pathogenic | 0.8307 | pathogenic | -0.273 | Destabilizing | 0.92 | D | 0.38 | neutral | None | None | None | None | I |
S/Q | 0.4363 | ambiguous | 0.4433 | ambiguous | -0.356 | Destabilizing | 0.85 | D | 0.354 | neutral | None | None | None | None | I |
S/R | 0.4699 | ambiguous | 0.4685 | ambiguous | -0.24 | Destabilizing | 0.009 | N | 0.187 | neutral | N | 0.428316236 | None | None | I |
S/T | 0.0874 | likely_benign | 0.0863 | benign | -0.269 | Destabilizing | 0.007 | N | 0.087 | neutral | N | 0.402687073 | None | None | I |
S/V | 0.2231 | likely_benign | 0.2184 | benign | -0.273 | Destabilizing | 0.447 | N | 0.42 | neutral | None | None | None | None | I |
S/W | 0.4272 | ambiguous | 0.4012 | ambiguous | -0.965 | Destabilizing | 0.992 | D | 0.575 | neutral | None | None | None | None | I |
S/Y | 0.2329 | likely_benign | 0.2058 | benign | -0.687 | Destabilizing | 0.972 | D | 0.48 | neutral | None | None | None | None | I |
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.