Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34390 | 103393;103394;103395 | chr2:178533447;178533446;178533445 | chr2:179398174;179398173;179398172 |
| N2AB | 32749 | 98470;98471;98472 | chr2:178533447;178533446;178533445 | chr2:179398174;179398173;179398172 |
| N2A | 31822 | 95689;95690;95691 | chr2:178533447;178533446;178533445 | chr2:179398174;179398173;179398172 |
| N2B | 25325 | 76198;76199;76200 | chr2:178533447;178533446;178533445 | chr2:179398174;179398173;179398172 |
| Novex-1 | 25450 | 76573;76574;76575 | chr2:178533447;178533446;178533445 | chr2:179398174;179398173;179398172 |
| Novex-2 | 25517 | 76774;76775;76776 | chr2:178533447;178533446;178533445 | chr2:179398174;179398173;179398172 |
| 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 | rs1163886514  |
-0.309 | 1.0 | D | 0.751 | 0.778 | 0.801125762009 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1163886514 |
-0.309 | 1.0 | D | 0.751 | 0.778 | 0.801125762009 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs1163886514 |
-0.309 | 1.0 | D | 0.751 | 0.778 | 0.801125762009 | gnomAD-4.0.0 | 6.40576E-06 | None | None | None | None | I | None | 5.07614E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78595E-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 | 0.8818 | likely_pathogenic | 0.7943 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.554214188 | None | None | I |
| P/C | 0.9894 | likely_pathogenic | 0.9797 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| P/D | 0.9834 | likely_pathogenic | 0.9749 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| P/E | 0.9692 | likely_pathogenic | 0.949 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| P/F | 0.9949 | likely_pathogenic | 0.9882 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/G | 0.9726 | likely_pathogenic | 0.9524 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| P/H | 0.9643 | likely_pathogenic | 0.9287 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.64265633 | None | None | I |
| P/I | 0.967 | likely_pathogenic | 0.9353 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/K | 0.9806 | likely_pathogenic | 0.9683 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| P/L | 0.9082 | likely_pathogenic | 0.8143 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.617350383 | None | None | I |
| P/M | 0.98 | likely_pathogenic | 0.9578 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| P/N | 0.9792 | likely_pathogenic | 0.9625 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| P/Q | 0.9552 | likely_pathogenic | 0.9162 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| P/R | 0.959 | likely_pathogenic | 0.9283 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.626233361 | None | None | I |
| P/S | 0.9489 | likely_pathogenic | 0.8935 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.549921774 | None | None | I |
| P/T | 0.9002 | likely_pathogenic | 0.8206 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.626233361 | None | None | I |
| P/V | 0.9421 | likely_pathogenic | 0.8982 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| P/W | 0.9972 | likely_pathogenic | 0.9945 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/Y | 0.9923 | likely_pathogenic | 0.9839 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
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.