Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 26607 | 80044;80045;80046 | chr2:178566313;178566312;178566311 | chr2:179431040;179431039;179431038 |
N2AB | 24966 | 75121;75122;75123 | chr2:178566313;178566312;178566311 | chr2:179431040;179431039;179431038 |
N2A | 24039 | 72340;72341;72342 | chr2:178566313;178566312;178566311 | chr2:179431040;179431039;179431038 |
N2B | 17542 | 52849;52850;52851 | chr2:178566313;178566312;178566311 | chr2:179431040;179431039;179431038 |
Novex-1 | 17667 | 53224;53225;53226 | chr2:178566313;178566312;178566311 | chr2:179431040;179431039;179431038 |
Novex-2 | 17734 | 53425;53426;53427 | chr2:178566313;178566312;178566311 | chr2:179431040;179431039;179431038 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/V | None | None | 1.0 | D | 0.809 | 0.822 | 0.855096733437 | gnomAD-4.0.0 | 1.59149E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85878E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/A | 0.4796 | ambiguous | 0.3925 | ambiguous | -0.206 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.633112553 | None | None | I |
G/C | 0.5763 | likely_pathogenic | 0.496 | ambiguous | -0.803 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.608412019 | None | None | I |
G/D | 0.8684 | likely_pathogenic | 0.7947 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.592030128 | None | None | I |
G/E | 0.8864 | likely_pathogenic | 0.8111 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
G/F | 0.9404 | likely_pathogenic | 0.9069 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
G/H | 0.8773 | likely_pathogenic | 0.806 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
G/I | 0.9422 | likely_pathogenic | 0.9023 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
G/K | 0.9026 | likely_pathogenic | 0.8237 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
G/L | 0.8984 | likely_pathogenic | 0.8489 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
G/M | 0.9046 | likely_pathogenic | 0.8521 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
G/N | 0.7597 | likely_pathogenic | 0.678 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
G/P | 0.992 | likely_pathogenic | 0.9886 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
G/Q | 0.8111 | likely_pathogenic | 0.7154 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
G/R | 0.779 | likely_pathogenic | 0.6523 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.649565883 | None | None | I |
G/S | 0.3231 | likely_benign | 0.2591 | benign | -0.384 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.575333915 | None | None | I |
G/T | 0.681 | likely_pathogenic | 0.5898 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
G/V | 0.8772 | likely_pathogenic | 0.8073 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.649767687 | None | None | I |
G/W | 0.9054 | likely_pathogenic | 0.8507 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
G/Y | 0.9038 | likely_pathogenic | 0.8542 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.817 | deleterious | 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.