Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 9517 | 28774;28775;28776 | chr2:178709770;178709769;178709768 | chr2:179574497;179574496;179574495 |
N2AB | 9200 | 27823;27824;27825 | chr2:178709770;178709769;178709768 | chr2:179574497;179574496;179574495 |
N2A | 8273 | 25042;25043;25044 | chr2:178709770;178709769;178709768 | chr2:179574497;179574496;179574495 |
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/A | None | None | 0.999 | None | 0.603 | 0.596 | 0.644821044561 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
V/M | None | None | 1.0 | None | 0.758 | 0.537 | 0.696542326487 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.5685 | likely_pathogenic | 0.6081 | pathogenic | -1.739 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
V/C | 0.954 | likely_pathogenic | 0.9603 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
V/D | 0.9968 | likely_pathogenic | 0.9979 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
V/E | 0.9901 | likely_pathogenic | 0.9927 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
V/F | 0.7194 | likely_pathogenic | 0.7827 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
V/G | 0.8276 | likely_pathogenic | 0.8608 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
V/H | 0.9966 | likely_pathogenic | 0.9974 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
V/I | 0.148 | likely_benign | 0.1584 | benign | -0.183 | Destabilizing | 0.998 | D | 0.537 | neutral | None | None | None | None | N |
V/K | 0.995 | likely_pathogenic | 0.9963 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
V/L | 0.6536 | likely_pathogenic | 0.7286 | pathogenic | -0.183 | Destabilizing | 0.997 | D | 0.621 | neutral | None | None | None | None | N |
V/M | 0.6755 | likely_pathogenic | 0.742 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
V/N | 0.9911 | likely_pathogenic | 0.9938 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
V/P | 0.987 | likely_pathogenic | 0.9893 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
V/Q | 0.9901 | likely_pathogenic | 0.9925 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
V/R | 0.9882 | likely_pathogenic | 0.9908 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
V/S | 0.9175 | likely_pathogenic | 0.9337 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
V/T | 0.7747 | likely_pathogenic | 0.7857 | pathogenic | -1.843 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
V/W | 0.9958 | likely_pathogenic | 0.9972 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
V/Y | 0.9796 | likely_pathogenic | 0.9862 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.845 | deleterious | 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.