Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21038 | 63337;63338;63339 | chr2:178588613;178588612;178588611 | chr2:179453340;179453339;179453338 |
| N2AB | 19397 | 58414;58415;58416 | chr2:178588613;178588612;178588611 | chr2:179453340;179453339;179453338 |
| N2A | 18470 | 55633;55634;55635 | chr2:178588613;178588612;178588611 | chr2:179453340;179453339;179453338 |
| N2B | 11973 | 36142;36143;36144 | chr2:178588613;178588612;178588611 | chr2:179453340;179453339;179453338 |
| Novex-1 | 12098 | 36517;36518;36519 | chr2:178588613;178588612;178588611 | chr2:179453340;179453339;179453338 |
| Novex-2 | 12165 | 36718;36719;36720 | chr2:178588613;178588612;178588611 | chr2:179453340;179453339;179453338 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs886042629  |
-1.38 | 1.0 | D | 0.797 | 0.544 | 0.834540731262 | gnomAD-2.1.1 | 4.45E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.1E-05 | None | 0 | 0 | 0 |
| V/F | rs886042629 |
-1.38 | 1.0 | D | 0.797 | 0.544 | 0.834540731262 | gnomAD-4.0.0 | 1.67142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.57351E-05 | 0 |
| V/L | None | None | 0.997 | N | 0.684 | 0.572 | 0.712609426866 | gnomAD-4.0.0 | 1.67142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.15457E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7657 | likely_pathogenic | 0.7727 | pathogenic | -2.593 | Highly Destabilizing | 0.999 | D | 0.673 | neutral | D | 0.537173117 | None | None | N |
| V/C | 0.9322 | likely_pathogenic | 0.9318 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| V/D | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -3.436 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.637609429 | None | None | N |
| V/E | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -3.141 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/F | 0.9658 | likely_pathogenic | 0.973 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.550504432 | None | None | N |
| V/G | 0.9182 | likely_pathogenic | 0.9266 | pathogenic | -3.153 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.637609429 | None | None | N |
| V/H | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.878 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/I | 0.1558 | likely_benign | 0.1425 | benign | -0.958 | Destabilizing | 0.997 | D | 0.593 | neutral | D | 0.526117716 | None | None | N |
| V/K | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -2.03 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/L | 0.8218 | likely_pathogenic | 0.83 | pathogenic | -0.958 | Destabilizing | 0.997 | D | 0.684 | prob.neutral | N | 0.512215099 | None | None | N |
| V/M | 0.8947 | likely_pathogenic | 0.8851 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/N | 0.9941 | likely_pathogenic | 0.9943 | pathogenic | -2.627 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| V/P | 0.9962 | likely_pathogenic | 0.9974 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/Q | 0.9947 | likely_pathogenic | 0.9949 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| V/R | 0.9924 | likely_pathogenic | 0.9935 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/S | 0.9593 | likely_pathogenic | 0.9559 | pathogenic | -3.131 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/T | 0.9244 | likely_pathogenic | 0.9047 | pathogenic | -2.697 | Highly Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/W | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/Y | 0.9955 | likely_pathogenic | 0.9964 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.803 | 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.