Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 28046 | 84361;84362;84363 | chr2:178561996;178561995;178561994 | chr2:179426723;179426722;179426721 |
N2AB | 26405 | 79438;79439;79440 | chr2:178561996;178561995;178561994 | chr2:179426723;179426722;179426721 |
N2A | 25478 | 76657;76658;76659 | chr2:178561996;178561995;178561994 | chr2:179426723;179426722;179426721 |
N2B | 18981 | 57166;57167;57168 | chr2:178561996;178561995;178561994 | chr2:179426723;179426722;179426721 |
Novex-1 | 19106 | 57541;57542;57543 | chr2:178561996;178561995;178561994 | chr2:179426723;179426722;179426721 |
Novex-2 | 19173 | 57742;57743;57744 | chr2:178561996;178561995;178561994 | chr2:179426723;179426722;179426721 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/F | None | None | 0.655 | N | 0.615 | 0.186 | 0.683689280437 | gnomAD-4.0.0 | 5.47506E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19655E-06 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 0.1371 | likely_benign | 0.1434 | benign | -1.7 | Destabilizing | None | N | 0.16 | neutral | N | 0.400684131 | None | None | I |
V/C | 0.6517 | likely_pathogenic | 0.6531 | pathogenic | -1.146 | Destabilizing | 0.836 | D | 0.597 | neutral | None | None | None | None | I |
V/D | 0.4021 | ambiguous | 0.4774 | ambiguous | -1.876 | Destabilizing | 0.213 | N | 0.644 | neutral | D | 0.52824837 | None | None | I |
V/E | 0.2588 | likely_benign | 0.2891 | benign | -1.779 | Destabilizing | 0.418 | N | 0.611 | neutral | None | None | None | None | I |
V/F | 0.1611 | likely_benign | 0.1669 | benign | -1.128 | Destabilizing | 0.655 | D | 0.615 | neutral | N | 0.510009326 | None | None | I |
V/G | 0.2741 | likely_benign | 0.3206 | benign | -2.102 | Highly Destabilizing | 0.101 | N | 0.585 | neutral | N | 0.493578436 | None | None | I |
V/H | 0.4929 | ambiguous | 0.5174 | ambiguous | -1.623 | Destabilizing | 0.836 | D | 0.645 | neutral | None | None | None | None | I |
V/I | 0.087 | likely_benign | 0.0813 | benign | -0.648 | Destabilizing | 0.002 | N | 0.187 | neutral | N | 0.474819317 | None | None | I |
V/K | 0.3059 | likely_benign | 0.3368 | benign | -1.542 | Destabilizing | 0.418 | N | 0.607 | neutral | None | None | None | None | I |
V/L | 0.1822 | likely_benign | 0.1675 | benign | -0.648 | Destabilizing | 0.017 | N | 0.359 | neutral | N | 0.488921978 | None | None | I |
V/M | 0.1267 | likely_benign | 0.127 | benign | -0.567 | Destabilizing | 0.716 | D | 0.586 | neutral | None | None | None | None | I |
V/N | 0.3086 | likely_benign | 0.344 | ambiguous | -1.514 | Destabilizing | 0.01 | N | 0.449 | neutral | None | None | None | None | I |
V/P | 0.9068 | likely_pathogenic | 0.9251 | pathogenic | -0.968 | Destabilizing | 0.836 | D | 0.624 | neutral | None | None | None | None | I |
V/Q | 0.2905 | likely_benign | 0.3156 | benign | -1.547 | Destabilizing | 0.836 | D | 0.629 | neutral | None | None | None | None | I |
V/R | 0.315 | likely_benign | 0.3593 | ambiguous | -1.139 | Destabilizing | 0.716 | D | 0.662 | neutral | None | None | None | None | I |
V/S | 0.1883 | likely_benign | 0.2111 | benign | -2.03 | Highly Destabilizing | 0.129 | N | 0.555 | neutral | None | None | None | None | I |
V/T | 0.1403 | likely_benign | 0.1443 | benign | -1.804 | Destabilizing | 0.228 | N | 0.457 | neutral | None | None | None | None | I |
V/W | 0.8198 | likely_pathogenic | 0.839 | pathogenic | -1.425 | Destabilizing | 0.983 | D | 0.663 | neutral | None | None | None | None | I |
V/Y | 0.4819 | ambiguous | 0.4955 | ambiguous | -1.098 | Destabilizing | 0.836 | D | 0.615 | 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.