Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6481 | 19666;19667;19668 | chr2:178728383;178728382;178728381 | chr2:179593110;179593109;179593108 |
| N2AB | 6164 | 18715;18716;18717 | chr2:178728383;178728382;178728381 | chr2:179593110;179593109;179593108 |
| N2A | 5237 | 15934;15935;15936 | chr2:178728383;178728382;178728381 | chr2:179593110;179593109;179593108 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/S | rs73038342  |
-1.909 | 0.414 | D | 0.701 | 0.746 | 0.483670899158 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs73038342 |
-1.909 | 0.414 | D | 0.701 | 0.746 | 0.483670899158 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/T | rs73038342 |
-1.744 | 0.976 | D | 0.875 | 0.82 | 0.792433632955 | gnomAD-2.1.1 | 8.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.52978E-04 | None | 0 | 9.49E-06 | 0 |
| P/T | rs73038342 |
-1.744 | 0.976 | D | 0.875 | 0.82 | 0.792433632955 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.86567E-03 | 0 |
| P/T | rs73038342 |
-1.744 | 0.976 | D | 0.875 | 0.82 | 0.792433632955 | gnomAD-4.0.0 | 8.62227E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.67001E-04 | 2.89598E-05 | 1.13895E-03 | 3.23206E-05 |
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 | 0.6311 | likely_pathogenic | 0.486 | ambiguous | -1.548 | Destabilizing | 0.919 | D | 0.795 | deleterious | D | 0.618870147 | None | None | N |
| P/C | 0.9865 | likely_pathogenic | 0.9689 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9978 | pathogenic | -1.502 | Destabilizing | 0.991 | D | 0.886 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.9911 | pathogenic | -1.498 | Destabilizing | 0.991 | D | 0.877 | deleterious | None | None | None | None | N |
| P/F | 0.9985 | likely_pathogenic | 0.9928 | pathogenic | -1.456 | Destabilizing | 0.999 | D | 0.89 | deleterious | None | None | None | None | N |
| P/G | 0.9856 | likely_pathogenic | 0.9655 | pathogenic | -1.841 | Destabilizing | 0.938 | D | 0.84 | deleterious | None | None | None | None | N |
| P/H | 0.9969 | likely_pathogenic | 0.9863 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/I | 0.9726 | likely_pathogenic | 0.9105 | pathogenic | -0.836 | Destabilizing | 0.995 | D | 0.885 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9928 | pathogenic | -1.153 | Destabilizing | 0.991 | D | 0.883 | deleterious | None | None | None | None | N |
| P/L | 0.9288 | likely_pathogenic | 0.801 | pathogenic | -0.836 | Destabilizing | 0.988 | D | 0.873 | deleterious | D | 0.619273755 | None | None | N |
| P/M | 0.9924 | likely_pathogenic | 0.9734 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/N | 0.9987 | likely_pathogenic | 0.995 | pathogenic | -1.079 | Destabilizing | 0.991 | D | 0.883 | deleterious | None | None | None | None | N |
| P/Q | 0.9949 | likely_pathogenic | 0.977 | pathogenic | -1.292 | Destabilizing | 0.988 | D | 0.894 | deleterious | D | 0.645013671 | None | None | N |
| P/R | 0.9931 | likely_pathogenic | 0.9725 | pathogenic | -0.69 | Destabilizing | 0.988 | D | 0.891 | deleterious | D | 0.645013671 | None | None | N |
| P/S | 0.9699 | likely_pathogenic | 0.9132 | pathogenic | -1.668 | Destabilizing | 0.414 | N | 0.701 | prob.neutral | D | 0.644610063 | None | None | N |
| P/T | 0.9661 | likely_pathogenic | 0.8893 | pathogenic | -1.548 | Destabilizing | 0.976 | D | 0.875 | deleterious | D | 0.644811867 | None | None | N |
| P/V | 0.9131 | likely_pathogenic | 0.8032 | pathogenic | -1.041 | Destabilizing | 0.991 | D | 0.881 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9984 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9949 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.891 | 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.