Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25827 | 77704;77705;77706 | chr2:178568653;178568652;178568651 | chr2:179433380;179433379;179433378 |
| N2AB | 24186 | 72781;72782;72783 | chr2:178568653;178568652;178568651 | chr2:179433380;179433379;179433378 |
| N2A | 23259 | 70000;70001;70002 | chr2:178568653;178568652;178568651 | chr2:179433380;179433379;179433378 |
| N2B | 16762 | 50509;50510;50511 | chr2:178568653;178568652;178568651 | chr2:179433380;179433379;179433378 |
| Novex-1 | 16887 | 50884;50885;50886 | chr2:178568653;178568652;178568651 | chr2:179433380;179433379;179433378 |
| Novex-2 | 16954 | 51085;51086;51087 | chr2:178568653;178568652;178568651 | chr2:179433380;179433379;179433378 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1352689122  |
None | 1.0 | D | 0.775 | 0.653 | 0.567064501529 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs1352689122 |
None | 1.0 | D | 0.775 | 0.653 | 0.567064501529 | gnomAD-4.0.0 | 2.56375E-06 | None | None | None | None | N | None | 3.38639E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4141 | ambiguous | 0.3617 | ambiguous | -1.81 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.537031305 | None | None | N |
| P/C | 0.9517 | likely_pathogenic | 0.9447 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/D | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/E | 0.9943 | likely_pathogenic | 0.9943 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/F | 0.9959 | likely_pathogenic | 0.9954 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/G | 0.9403 | likely_pathogenic | 0.93 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/H | 0.9923 | likely_pathogenic | 0.9919 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/I | 0.9342 | likely_pathogenic | 0.9309 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/K | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/L | 0.819 | likely_pathogenic | 0.8136 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.554055468 | None | None | N |
| P/M | 0.949 | likely_pathogenic | 0.9466 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/N | 0.9936 | likely_pathogenic | 0.9938 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/Q | 0.9845 | likely_pathogenic | 0.9842 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.570139169 | None | None | N |
| P/R | 0.9902 | likely_pathogenic | 0.9896 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.581495475 | None | None | N |
| P/S | 0.9221 | likely_pathogenic | 0.9164 | pathogenic | -1.925 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.56963219 | None | None | N |
| P/T | 0.8838 | likely_pathogenic | 0.8863 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.558111301 | None | None | N |
| P/V | 0.8381 | likely_pathogenic | 0.8274 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| P/Y | 0.9964 | likely_pathogenic | 0.9962 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.832 | 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.