Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15423 | 46492;46493;46494 | chr2:178620254;178620253;178620252 | chr2:179484981;179484980;179484979 |
| N2AB | 13782 | 41569;41570;41571 | chr2:178620254;178620253;178620252 | chr2:179484981;179484980;179484979 |
| N2A | 12855 | 38788;38789;38790 | chr2:178620254;178620253;178620252 | chr2:179484981;179484980;179484979 |
| N2B | 6358 | 19297;19298;19299 | chr2:178620254;178620253;178620252 | chr2:179484981;179484980;179484979 |
| Novex-1 | 6483 | 19672;19673;19674 | chr2:178620254;178620253;178620252 | chr2:179484981;179484980;179484979 |
| Novex-2 | 6550 | 19873;19874;19875 | chr2:178620254;178620253;178620252 | chr2:179484981;179484980;179484979 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs2058068284  |
None | 1.0 | D | 0.831 | 0.805 | 0.793074248023 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9982 | likely_pathogenic | 0.999 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.725068668 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.276 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.147 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/F | 0.7629 | likely_pathogenic | 0.8323 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/G | 0.9912 | likely_pathogenic | 0.9942 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.725091829 | None | None | N |
| W/H | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/I | 0.9903 | likely_pathogenic | 0.9941 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/L | 0.9766 | likely_pathogenic | 0.9861 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.725091829 | None | None | N |
| W/M | 0.996 | likely_pathogenic | 0.9976 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.07 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.8 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.347 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.725068668 | None | None | N |
| W/S | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -3.074 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.725068668 | None | None | N |
| W/T | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -2.863 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/V | 0.9933 | likely_pathogenic | 0.996 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/Y | 0.9399 | likely_pathogenic | 0.955 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.789 | 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.