Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26784 | 80575;80576;80577 | chr2:178565782;178565781;178565780 | chr2:179430509;179430508;179430507 |
| N2AB | 25143 | 75652;75653;75654 | chr2:178565782;178565781;178565780 | chr2:179430509;179430508;179430507 |
| N2A | 24216 | 72871;72872;72873 | chr2:178565782;178565781;178565780 | chr2:179430509;179430508;179430507 |
| N2B | 17719 | 53380;53381;53382 | chr2:178565782;178565781;178565780 | chr2:179430509;179430508;179430507 |
| Novex-1 | 17844 | 53755;53756;53757 | chr2:178565782;178565781;178565780 | chr2:179430509;179430508;179430507 |
| Novex-2 | 17911 | 53956;53957;53958 | chr2:178565782;178565781;178565780 | chr2:179430509;179430508;179430507 |
| 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 | None | None | 0.389 | D | 0.642 | 0.476 | 0.566846708062 | gnomAD-4.0.0 | 6.84287E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99585E-07 | 0 | 0 |
| P/R | rs1553584164  |
None | 1.0 | D | 0.859 | 0.638 | 0.587148908892 | gnomAD-4.0.0 | 1.36857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79917E-06 | 0 | 0 |
| P/S | rs1705592844 |
None | 0.985 | D | 0.778 | 0.605 | 0.497613835824 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1705592844 |
None | 0.985 | D | 0.778 | 0.605 | 0.497613835824 | gnomAD-4.0.0 | 6.57549E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47033E-05 | 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 | 0.5555 | ambiguous | 0.4689 | ambiguous | -2.491 | Highly Destabilizing | 0.942 | D | 0.699 | prob.neutral | N | 0.521102642 | None | None | N |
| P/C | 0.9298 | likely_pathogenic | 0.9105 | pathogenic | -2.324 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.495 | Highly Destabilizing | 0.962 | D | 0.804 | deleterious | None | None | None | None | N |
| P/E | 0.9948 | likely_pathogenic | 0.9943 | pathogenic | -3.266 | Highly Destabilizing | 0.991 | D | 0.805 | deleterious | None | None | None | None | N |
| P/F | 0.997 | likely_pathogenic | 0.9956 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/G | 0.9866 | likely_pathogenic | 0.9832 | pathogenic | -3.005 | Highly Destabilizing | 0.996 | D | 0.823 | deleterious | None | None | None | None | N |
| P/H | 0.9955 | likely_pathogenic | 0.9951 | pathogenic | -2.598 | Highly Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| P/I | 0.6952 | likely_pathogenic | 0.5876 | pathogenic | -1.031 | Destabilizing | 0.668 | D | 0.658 | neutral | None | None | None | None | N |
| P/K | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/L | 0.7813 | likely_pathogenic | 0.6955 | pathogenic | -1.031 | Destabilizing | 0.389 | N | 0.642 | neutral | D | 0.557373604 | None | None | N |
| P/M | 0.9529 | likely_pathogenic | 0.9366 | pathogenic | -1.387 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -2.516 | Highly Destabilizing | 0.994 | D | 0.859 | deleterious | None | None | None | None | N |
| P/Q | 0.9907 | likely_pathogenic | 0.9893 | pathogenic | -2.344 | Highly Destabilizing | 0.997 | D | 0.822 | deleterious | D | 0.541043776 | None | None | N |
| P/R | 0.9912 | likely_pathogenic | 0.9907 | pathogenic | -1.851 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.552057687 | None | None | N |
| P/S | 0.9505 | likely_pathogenic | 0.9383 | pathogenic | -3.054 | Highly Destabilizing | 0.985 | D | 0.778 | deleterious | D | 0.547538236 | None | None | N |
| P/T | 0.8227 | likely_pathogenic | 0.7774 | pathogenic | -2.693 | Highly Destabilizing | 0.934 | D | 0.767 | deleterious | D | 0.537561056 | None | None | N |
| P/V | 0.4716 | ambiguous | 0.3613 | ambiguous | -1.496 | Destabilizing | 0.388 | N | 0.603 | neutral | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/Y | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.592 | Destabilizing | 0.999 | D | 0.876 | 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.