Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21760 | 65503;65504;65505 | chr2:178583904;178583903;178583902 | chr2:179448631;179448630;179448629 |
| N2AB | 20119 | 60580;60581;60582 | chr2:178583904;178583903;178583902 | chr2:179448631;179448630;179448629 |
| N2A | 19192 | 57799;57800;57801 | chr2:178583904;178583903;178583902 | chr2:179448631;179448630;179448629 |
| N2B | 12695 | 38308;38309;38310 | chr2:178583904;178583903;178583902 | chr2:179448631;179448630;179448629 |
| Novex-1 | 12820 | 38683;38684;38685 | chr2:178583904;178583903;178583902 | chr2:179448631;179448630;179448629 |
| Novex-2 | 12887 | 38884;38885;38886 | chr2:178583904;178583903;178583902 | chr2:179448631;179448630;179448629 |
| 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/L | rs1236566550  |
None | 1.0 | N | 0.89 | 0.467 | 0.686334916094 | gnomAD-4.0.0 | 4.96751E-06 | None | None | None | None | N | None | 6.2348E-05 | 2.56739E-05 | None | 4.12201E-05 | 0 | None | 0 | 0 | 1.84831E-06 | 1.27632E-05 | 0 |
| P/R | None | None | 1.0 | N | 0.914 | 0.433 | 0.487772906946 | gnomAD-4.0.0 | 7.09636E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.27632E-05 | 0 |
| P/T | None | None | 1.0 | N | 0.842 | 0.345 | 0.408036853922 | gnomAD-4.0.0 | 2.85383E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.70624E-06 | 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 | 0.0924 | likely_benign | 0.0757 | benign | -1.478 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.473666445 | None | None | N |
| P/C | 0.5742 | likely_pathogenic | 0.4824 | ambiguous | -1.0 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/D | 0.8837 | likely_pathogenic | 0.8598 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/E | 0.607 | likely_pathogenic | 0.5314 | ambiguous | -1.694 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/F | 0.7709 | likely_pathogenic | 0.7002 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/G | 0.5795 | likely_pathogenic | 0.5079 | ambiguous | -1.727 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.4554 | ambiguous | 0.3931 | ambiguous | -1.227 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.527357525 | None | None | N |
| P/I | 0.4947 | ambiguous | 0.4115 | ambiguous | -0.909 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/K | 0.561 | ambiguous | 0.4534 | ambiguous | -1.145 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/L | 0.3181 | likely_benign | 0.254 | benign | -0.909 | Destabilizing | 1.0 | D | 0.89 | deleterious | N | 0.508999781 | None | None | N |
| P/M | 0.5395 | ambiguous | 0.4517 | ambiguous | -0.585 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/N | 0.7101 | likely_pathogenic | 0.6702 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/Q | 0.3371 | likely_benign | 0.2651 | benign | -1.21 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/R | 0.3651 | ambiguous | 0.2749 | benign | -0.514 | Destabilizing | 1.0 | D | 0.914 | deleterious | N | 0.487982237 | None | None | N |
| P/S | 0.2188 | likely_benign | 0.1955 | benign | -1.334 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.484259254 | None | None | N |
| P/T | 0.2292 | likely_benign | 0.1933 | benign | -1.298 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.488578121 | None | None | N |
| P/V | 0.3455 | ambiguous | 0.2736 | benign | -1.065 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/W | 0.9084 | likely_pathogenic | 0.8732 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/Y | 0.7687 | likely_pathogenic | 0.7003 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.927 | 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.