Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18596 | 56011;56012;56013 | chr2:178601118;178601117;178601116 | chr2:179465845;179465844;179465843 |
| N2AB | 16955 | 51088;51089;51090 | chr2:178601118;178601117;178601116 | chr2:179465845;179465844;179465843 |
| N2A | 16028 | 48307;48308;48309 | chr2:178601118;178601117;178601116 | chr2:179465845;179465844;179465843 |
| N2B | 9531 | 28816;28817;28818 | chr2:178601118;178601117;178601116 | chr2:179465845;179465844;179465843 |
| Novex-1 | 9656 | 29191;29192;29193 | chr2:178601118;178601117;178601116 | chr2:179465845;179465844;179465843 |
| Novex-2 | 9723 | 29392;29393;29394 | chr2:178601118;178601117;178601116 | chr2:179465845;179465844;179465843 |
| 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/L | rs777489999  |
-0.071 | 0.489 | N | 0.615 | 0.252 | 0.318828661733 | gnomAD-2.1.1 | 4.54E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.19E-05 | None | 0 | 0 | 0 |
| V/L | rs777489999 |
-0.071 | 0.489 | N | 0.615 | 0.252 | 0.318828661733 | gnomAD-4.0.0 | 1.67899E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.57684E-05 | 0 |
| V/M | rs777489999 |
-0.555 | 0.99 | N | 0.745 | 0.291 | 0.442466506703 | gnomAD-2.1.1 | 4.54E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.8E-06 | 0 |
| V/M | rs777489999 |
-0.555 | 0.99 | N | 0.745 | 0.291 | 0.442466506703 | gnomAD-4.0.0 | 1.67899E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9854E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4057 | ambiguous | 0.3119 | benign | -2.108 | Highly Destabilizing | 0.014 | N | 0.313 | neutral | N | 0.512614409 | None | None | N |
| V/C | 0.8327 | likely_pathogenic | 0.7984 | pathogenic | -1.785 | Destabilizing | 0.994 | D | 0.825 | deleterious | None | None | None | None | N |
| V/D | 0.9974 | likely_pathogenic | 0.9962 | pathogenic | -2.954 | Highly Destabilizing | 0.978 | D | 0.878 | deleterious | None | None | None | None | N |
| V/E | 0.9913 | likely_pathogenic | 0.9883 | pathogenic | -2.618 | Highly Destabilizing | 0.942 | D | 0.857 | deleterious | N | 0.521561082 | None | None | N |
| V/F | 0.84 | likely_pathogenic | 0.7764 | pathogenic | -1.23 | Destabilizing | 0.978 | D | 0.841 | deleterious | None | None | None | None | N |
| V/G | 0.8091 | likely_pathogenic | 0.75 | pathogenic | -2.752 | Highly Destabilizing | 0.89 | D | 0.804 | deleterious | N | 0.513963758 | None | None | N |
| V/H | 0.9968 | likely_pathogenic | 0.9954 | pathogenic | -2.802 | Highly Destabilizing | 0.998 | D | 0.875 | deleterious | None | None | None | None | N |
| V/I | 0.1287 | likely_benign | 0.1093 | benign | -0.239 | Destabilizing | 0.717 | D | 0.543 | neutral | None | None | None | None | N |
| V/K | 0.9933 | likely_pathogenic | 0.9919 | pathogenic | -1.646 | Destabilizing | 0.956 | D | 0.867 | deleterious | None | None | None | None | N |
| V/L | 0.5219 | ambiguous | 0.4419 | ambiguous | -0.239 | Destabilizing | 0.489 | N | 0.615 | neutral | N | 0.480208415 | None | None | N |
| V/M | 0.5729 | likely_pathogenic | 0.4833 | ambiguous | -0.623 | Destabilizing | 0.99 | D | 0.745 | deleterious | N | 0.474930865 | None | None | N |
| V/N | 0.9887 | likely_pathogenic | 0.9832 | pathogenic | -2.369 | Highly Destabilizing | 0.978 | D | 0.89 | deleterious | None | None | None | None | N |
| V/P | 0.9948 | likely_pathogenic | 0.9927 | pathogenic | -0.842 | Destabilizing | 0.978 | D | 0.877 | deleterious | None | None | None | None | N |
| V/Q | 0.9857 | likely_pathogenic | 0.9813 | pathogenic | -1.949 | Destabilizing | 0.978 | D | 0.884 | deleterious | None | None | None | None | N |
| V/R | 0.9823 | likely_pathogenic | 0.9792 | pathogenic | -1.907 | Destabilizing | 0.956 | D | 0.883 | deleterious | None | None | None | None | N |
| V/S | 0.8768 | likely_pathogenic | 0.8114 | pathogenic | -2.928 | Highly Destabilizing | 0.915 | D | 0.822 | deleterious | None | None | None | None | N |
| V/T | 0.7293 | likely_pathogenic | 0.6486 | pathogenic | -2.41 | Highly Destabilizing | 0.86 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/W | 0.9979 | likely_pathogenic | 0.9967 | pathogenic | -1.783 | Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | N |
| V/Y | 0.9866 | likely_pathogenic | 0.9816 | pathogenic | -1.414 | Destabilizing | 0.993 | D | 0.851 | 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.