Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19703 | 59332;59333;59334 | chr2:178593012;178593011;178593010 | chr2:179457739;179457738;179457737 |
| N2AB | 18062 | 54409;54410;54411 | chr2:178593012;178593011;178593010 | chr2:179457739;179457738;179457737 |
| N2A | 17135 | 51628;51629;51630 | chr2:178593012;178593011;178593010 | chr2:179457739;179457738;179457737 |
| N2B | 10638 | 32137;32138;32139 | chr2:178593012;178593011;178593010 | chr2:179457739;179457738;179457737 |
| Novex-1 | 10763 | 32512;32513;32514 | chr2:178593012;178593011;178593010 | chr2:179457739;179457738;179457737 |
| Novex-2 | 10830 | 32713;32714;32715 | chr2:178593012;178593011;178593010 | chr2:179457739;179457738;179457737 |
| 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 | rs1033900652  |
-1.748 | 1.0 | N | 0.823 | 0.378 | 0.374434639691 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| P/A | rs1033900652 |
-1.748 | 1.0 | N | 0.823 | 0.378 | 0.374434639691 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| P/A | rs1033900652 |
-1.748 | 1.0 | N | 0.823 | 0.378 | 0.374434639691 | gnomAD-4.0.0 | 6.19843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47726E-06 | 0 | 0 |
| P/L | None | None | 1.0 | N | 0.879 | 0.428 | 0.471539375507 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.093 | likely_benign | 0.0874 | benign | -1.637 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.459782789 | None | None | N |
| P/C | 0.5136 | ambiguous | 0.529 | ambiguous | -1.04 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/D | 0.7122 | likely_pathogenic | 0.6897 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/E | 0.3644 | ambiguous | 0.3368 | benign | -1.83 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/F | 0.5561 | ambiguous | 0.5858 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/G | 0.4851 | ambiguous | 0.4842 | ambiguous | -2.0 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/H | 0.2871 | likely_benign | 0.2683 | benign | -1.52 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/I | 0.1981 | likely_benign | 0.2245 | benign | -0.703 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/K | 0.2812 | likely_benign | 0.2432 | benign | -1.545 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/L | 0.115 | likely_benign | 0.118 | benign | -0.703 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.476340124 | None | None | N |
| P/M | 0.243 | likely_benign | 0.2527 | benign | -0.548 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/N | 0.4914 | ambiguous | 0.5027 | ambiguous | -1.476 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/Q | 0.1815 | likely_benign | 0.1668 | benign | -1.563 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.521103393 | None | None | N |
| P/R | 0.2274 | likely_benign | 0.1977 | benign | -1.043 | Destabilizing | 1.0 | D | 0.891 | deleterious | N | 0.477120543 | None | None | N |
| P/S | 0.208 | likely_benign | 0.1998 | benign | -1.938 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.473693551 | None | None | N |
| P/T | 0.1403 | likely_benign | 0.1349 | benign | -1.756 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.522103471 | None | None | N |
| P/V | 0.1383 | likely_benign | 0.154 | benign | -0.983 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/W | 0.7857 | likely_pathogenic | 0.7935 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/Y | 0.5268 | ambiguous | 0.5245 | ambiguous | -1.142 | Destabilizing | 1.0 | D | 0.877 | 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.