Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 8957 | 27094;27095;27096 | chr2:178713265;178713264;178713263 | chr2:179577992;179577991;179577990 |
N2AB | 8640 | 26143;26144;26145 | chr2:178713265;178713264;178713263 | chr2:179577992;179577991;179577990 |
N2A | 7713 | 23362;23363;23364 | chr2:178713265;178713264;178713263 | chr2:179577992;179577991;179577990 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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/I | rs1008014872 | None | 0.008 | N | 0.22 | 0.114 | 0.376921832658 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 1.69033E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/I | rs1008014872 | None | 0.008 | N | 0.22 | 0.114 | 0.376921832658 | gnomAD-4.0.0 | 5.58425E-06 | None | None | None | None | N | None | 1.20218E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/L | None | None | 0.156 | D | 0.584 | 0.445 | 0.400899426204 | gnomAD-4.0.0 | 6.85124E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00276E-07 | 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 | 0.444 | ambiguous | 0.5137 | ambiguous | -1.439 | Destabilizing | 0.517 | D | 0.654 | neutral | D | 0.576175082 | None | None | N |
V/C | 0.8889 | likely_pathogenic | 0.9068 | pathogenic | -1.013 | Destabilizing | 0.996 | D | 0.721 | prob.delet. | None | None | None | None | N |
V/D | 0.9478 | likely_pathogenic | 0.964 | pathogenic | -0.973 | Destabilizing | 0.949 | D | 0.855 | deleterious | D | 0.630581973 | None | None | N |
V/E | 0.894 | likely_pathogenic | 0.9248 | pathogenic | -0.932 | Destabilizing | 0.961 | D | 0.837 | deleterious | None | None | None | None | N |
V/F | 0.3444 | ambiguous | 0.3584 | ambiguous | -1.037 | Destabilizing | 0.901 | D | 0.759 | deleterious | D | 0.538362604 | None | None | N |
V/G | 0.6837 | likely_pathogenic | 0.7361 | pathogenic | -1.808 | Destabilizing | 0.949 | D | 0.827 | deleterious | D | 0.630581973 | None | None | N |
V/H | 0.948 | likely_pathogenic | 0.9635 | pathogenic | -1.388 | Destabilizing | 0.996 | D | 0.833 | deleterious | None | None | None | None | N |
V/I | 0.0787 | likely_benign | 0.0771 | benign | -0.512 | Destabilizing | 0.008 | N | 0.22 | neutral | N | 0.458068714 | None | None | N |
V/K | 0.9047 | likely_pathogenic | 0.9327 | pathogenic | -1.085 | Destabilizing | 0.961 | D | 0.839 | deleterious | None | None | None | None | N |
V/L | 0.3181 | likely_benign | 0.3389 | benign | -0.512 | Destabilizing | 0.156 | N | 0.584 | neutral | D | 0.538575127 | None | None | N |
V/M | 0.2623 | likely_benign | 0.3078 | benign | -0.449 | Destabilizing | 0.923 | D | 0.655 | neutral | None | None | None | None | N |
V/N | 0.8661 | likely_pathogenic | 0.9012 | pathogenic | -0.918 | Destabilizing | 0.961 | D | 0.851 | deleterious | None | None | None | None | N |
V/P | 0.8984 | likely_pathogenic | 0.931 | pathogenic | -0.785 | Destabilizing | 0.987 | D | 0.841 | deleterious | None | None | None | None | N |
V/Q | 0.8824 | likely_pathogenic | 0.9068 | pathogenic | -0.995 | Destabilizing | 0.987 | D | 0.845 | deleterious | None | None | None | None | N |
V/R | 0.8752 | likely_pathogenic | 0.8953 | pathogenic | -0.718 | Destabilizing | 0.961 | D | 0.839 | deleterious | None | None | None | None | N |
V/S | 0.6849 | likely_pathogenic | 0.7408 | pathogenic | -1.534 | Destabilizing | 0.858 | D | 0.819 | deleterious | None | None | None | None | N |
V/T | 0.5058 | ambiguous | 0.5896 | pathogenic | -1.361 | Destabilizing | 0.096 | N | 0.413 | neutral | None | None | None | None | N |
V/W | 0.9561 | likely_pathogenic | 0.9674 | pathogenic | -1.26 | Destabilizing | 0.996 | D | 0.822 | deleterious | None | None | None | None | N |
V/Y | 0.8485 | likely_pathogenic | 0.8725 | pathogenic | -0.933 | Destabilizing | 0.961 | D | 0.737 | prob.delet. | None | None | 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.