Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32523 | 97792;97793;97794 | chr2:178541510;178541509;178541508 | chr2:179406237;179406236;179406235 |
| N2AB | 30882 | 92869;92870;92871 | chr2:178541510;178541509;178541508 | chr2:179406237;179406236;179406235 |
| N2A | 29955 | 90088;90089;90090 | chr2:178541510;178541509;178541508 | chr2:179406237;179406236;179406235 |
| N2B | 23458 | 70597;70598;70599 | chr2:178541510;178541509;178541508 | chr2:179406237;179406236;179406235 |
| Novex-1 | 23583 | 70972;70973;70974 | chr2:178541510;178541509;178541508 | chr2:179406237;179406236;179406235 |
| Novex-2 | 23650 | 71173;71174;71175 | chr2:178541510;178541509;178541508 | chr2:179406237;179406236;179406235 |
| 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/Q | None | None | 1.0 | D | 0.817 | 0.685 | 0.6697384959 | gnomAD-4.0.0 | 1.36895E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79939E-06 | 0 | 0 |
| P/R | rs1406600321  |
-1.254 | 1.0 | D | 0.874 | 0.694 | 0.7057210436 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/R | rs1406600321 |
-1.254 | 1.0 | D | 0.874 | 0.694 | 0.7057210436 | gnomAD-4.0.0 | 6.84473E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99696E-07 | 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 | 0.5863 | likely_pathogenic | 0.5888 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.506449475 | None | None | N |
| P/C | 0.9206 | likely_pathogenic | 0.9051 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/D | 0.9921 | likely_pathogenic | 0.9931 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/E | 0.9797 | likely_pathogenic | 0.984 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/G | 0.9478 | likely_pathogenic | 0.9535 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/H | 0.9731 | likely_pathogenic | 0.9786 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/I | 0.9668 | likely_pathogenic | 0.9663 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/K | 0.987 | likely_pathogenic | 0.9911 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.8654 | likely_pathogenic | 0.8802 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.541897517 | None | None | N |
| P/M | 0.9717 | likely_pathogenic | 0.9704 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/N | 0.9901 | likely_pathogenic | 0.991 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/Q | 0.9613 | likely_pathogenic | 0.9694 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.543671944 | None | None | N |
| P/R | 0.962 | likely_pathogenic | 0.9726 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.531897564 | None | None | N |
| P/S | 0.8486 | likely_pathogenic | 0.8573 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.497143858 | None | None | N |
| P/T | 0.8161 | likely_pathogenic | 0.8351 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.536163525 | None | None | N |
| P/V | 0.8887 | likely_pathogenic | 0.8845 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/W | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/Y | 0.9958 | likely_pathogenic | 0.9963 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.869 | 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.