Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 34333 | 103222;103223;103224 | chr2:178533618;178533617;178533616 | chr2:179398345;179398344;179398343 |
N2AB | 32692 | 98299;98300;98301 | chr2:178533618;178533617;178533616 | chr2:179398345;179398344;179398343 |
N2A | 31765 | 95518;95519;95520 | chr2:178533618;178533617;178533616 | chr2:179398345;179398344;179398343 |
N2B | 25268 | 76027;76028;76029 | chr2:178533618;178533617;178533616 | chr2:179398345;179398344;179398343 |
Novex-1 | 25393 | 76402;76403;76404 | chr2:178533618;178533617;178533616 | chr2:179398345;179398344;179398343 |
Novex-2 | 25460 | 76603;76604;76605 | chr2:178533618;178533617;178533616 | chr2:179398345;179398344;179398343 |
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 | 0.822 | N | 0.697 | 0.329 | 0.470566500458 | 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 |
V/I | rs763815899 | 0.241 | 0.014 | N | 0.319 | 0.032 | 0.126345400529 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
V/I | rs763815899 | 0.241 | 0.014 | N | 0.319 | 0.032 | 0.126345400529 | gnomAD-4.0.0 | 3.182E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 2.85768E-06 | 0 | 0 |
V/L | rs763815899 | 0.238 | 0.247 | N | 0.554 | 0.123 | 0.239305524855 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
V/L | rs763815899 | 0.238 | 0.247 | N | 0.554 | 0.123 | 0.239305524855 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85768E-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 | 0.6227 | likely_pathogenic | 0.6264 | pathogenic | -1.597 | Destabilizing | 0.822 | D | 0.697 | prob.neutral | N | 0.457234689 | None | None | N |
V/C | 0.9328 | likely_pathogenic | 0.9412 | pathogenic | -0.962 | Destabilizing | 0.998 | D | 0.761 | deleterious | None | None | None | None | N |
V/D | 0.9968 | likely_pathogenic | 0.9982 | pathogenic | -2.409 | Highly Destabilizing | 0.99 | D | 0.857 | deleterious | N | 0.475601616 | None | None | N |
V/E | 0.991 | likely_pathogenic | 0.9947 | pathogenic | -2.097 | Highly Destabilizing | 0.993 | D | 0.859 | deleterious | None | None | None | None | N |
V/F | 0.829 | likely_pathogenic | 0.8675 | pathogenic | -0.837 | Destabilizing | 0.942 | D | 0.785 | deleterious | N | 0.474080679 | None | None | N |
V/G | 0.9252 | likely_pathogenic | 0.9305 | pathogenic | -2.213 | Highly Destabilizing | 0.971 | D | 0.859 | deleterious | N | 0.475601616 | None | None | N |
V/H | 0.9976 | likely_pathogenic | 0.9986 | pathogenic | -2.313 | Highly Destabilizing | 0.998 | D | 0.863 | deleterious | None | None | None | None | N |
V/I | 0.0851 | likely_benign | 0.1027 | benign | 0.171 | Stabilizing | 0.014 | N | 0.319 | neutral | N | 0.489480394 | None | None | N |
V/K | 0.9951 | likely_pathogenic | 0.9966 | pathogenic | -1.036 | Destabilizing | 0.978 | D | 0.861 | deleterious | None | None | None | None | N |
V/L | 0.5497 | ambiguous | 0.5588 | ambiguous | 0.171 | Stabilizing | 0.247 | N | 0.554 | neutral | N | 0.43883322 | None | None | N |
V/M | 0.5357 | ambiguous | 0.5911 | pathogenic | -0.057 | Destabilizing | 0.956 | D | 0.671 | neutral | None | None | None | None | N |
V/N | 0.9889 | likely_pathogenic | 0.9939 | pathogenic | -1.653 | Destabilizing | 0.993 | D | 0.881 | deleterious | None | None | None | None | N |
V/P | 0.9919 | likely_pathogenic | 0.9965 | pathogenic | -0.395 | Destabilizing | 0.993 | D | 0.859 | deleterious | None | None | None | None | N |
V/Q | 0.9912 | likely_pathogenic | 0.9941 | pathogenic | -1.281 | Destabilizing | 0.993 | D | 0.876 | deleterious | None | None | None | None | N |
V/R | 0.9895 | likely_pathogenic | 0.9924 | pathogenic | -1.348 | Destabilizing | 0.993 | D | 0.883 | deleterious | None | None | None | None | N |
V/S | 0.9371 | likely_pathogenic | 0.956 | pathogenic | -2.196 | Highly Destabilizing | 0.978 | D | 0.853 | deleterious | None | None | None | None | N |
V/T | 0.805 | likely_pathogenic | 0.8377 | pathogenic | -1.715 | Destabilizing | 0.86 | D | 0.733 | prob.delet. | None | None | None | None | N |
V/W | 0.9981 | likely_pathogenic | 0.999 | pathogenic | -1.461 | Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | N |
V/Y | 0.9903 | likely_pathogenic | 0.9938 | pathogenic | -0.991 | Destabilizing | 0.978 | D | 0.776 | 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.