Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26801 | 80626;80627;80628 | chr2:178565731;178565730;178565729 | chr2:179430458;179430457;179430456 |
| N2AB | 25160 | 75703;75704;75705 | chr2:178565731;178565730;178565729 | chr2:179430458;179430457;179430456 |
| N2A | 24233 | 72922;72923;72924 | chr2:178565731;178565730;178565729 | chr2:179430458;179430457;179430456 |
| N2B | 17736 | 53431;53432;53433 | chr2:178565731;178565730;178565729 | chr2:179430458;179430457;179430456 |
| Novex-1 | 17861 | 53806;53807;53808 | chr2:178565731;178565730;178565729 | chr2:179430458;179430457;179430456 |
| Novex-2 | 17928 | 54007;54008;54009 | chr2:178565731;178565730;178565729 | chr2:179430458;179430457;179430456 |
| 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/R | None | None | 1.0 | D | 0.892 | 0.839 | 0.89825893883 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41429E-04 | 0 | 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 | 0.9952 | likely_pathogenic | 0.9958 | pathogenic | -3.649 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/C | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.675775462 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.95 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.848 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/F | 0.7883 | likely_pathogenic | 0.7992 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/G | 0.9798 | likely_pathogenic | 0.9811 | pathogenic | -3.876 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.675775462 | None | None | N |
| W/H | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.745 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| W/I | 0.9912 | likely_pathogenic | 0.9915 | pathogenic | -2.756 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.916 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/L | 0.9757 | likely_pathogenic | 0.9768 | pathogenic | -2.756 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.642727719 | None | None | N |
| W/M | 0.9948 | likely_pathogenic | 0.9949 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.586 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -3.086 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.477 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.675775462 | None | None | N |
| W/S | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -3.729 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.675775462 | None | None | N |
| W/T | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -3.557 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/V | 0.9903 | likely_pathogenic | 0.9919 | pathogenic | -3.086 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/Y | 0.9534 | likely_pathogenic | 0.9607 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.847 | 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.