Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19874 | 59845;59846;59847 | chr2:178592385;178592384;178592383 | chr2:179457112;179457111;179457110 |
| N2AB | 18233 | 54922;54923;54924 | chr2:178592385;178592384;178592383 | chr2:179457112;179457111;179457110 |
| N2A | 17306 | 52141;52142;52143 | chr2:178592385;178592384;178592383 | chr2:179457112;179457111;179457110 |
| N2B | 10809 | 32650;32651;32652 | chr2:178592385;178592384;178592383 | chr2:179457112;179457111;179457110 |
| Novex-1 | 10934 | 33025;33026;33027 | chr2:178592385;178592384;178592383 | chr2:179457112;179457111;179457110 |
| Novex-2 | 11001 | 33226;33227;33228 | chr2:178592385;178592384;178592383 | chr2:179457112;179457111;179457110 |
| 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/A | rs1339819720  |
None | 0.999 | D | 0.782 | 0.719 | 0.792466670284 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1339819720 |
None | 0.999 | D | 0.782 | 0.719 | 0.792466670284 | gnomAD-4.0.0 | 2.02997E-06 | None | None | None | None | I | None | 3.49394E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.997 | N | 0.755 | 0.476 | 0.820047861575 | gnomAD-4.0.0 | 1.59549E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03049E-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 | 0.8938 | likely_pathogenic | 0.8768 | pathogenic | -1.925 | Destabilizing | 0.999 | D | 0.782 | deleterious | D | 0.579514674 | None | None | I |
| V/C | 0.9565 | likely_pathogenic | 0.9536 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| V/D | 0.9957 | likely_pathogenic | 0.996 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| V/E | 0.9902 | likely_pathogenic | 0.9907 | pathogenic | -2.246 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.621677559 | None | None | I |
| V/F | 0.8822 | likely_pathogenic | 0.8713 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| V/G | 0.9381 | likely_pathogenic | 0.9402 | pathogenic | -2.335 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.621677559 | None | None | I |
| V/H | 0.9951 | likely_pathogenic | 0.9956 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| V/I | 0.1434 | likely_benign | 0.123 | benign | -0.837 | Destabilizing | 0.997 | D | 0.755 | deleterious | N | 0.507067446 | None | None | I |
| V/K | 0.9901 | likely_pathogenic | 0.9907 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| V/L | 0.7799 | likely_pathogenic | 0.7346 | pathogenic | -0.837 | Destabilizing | 0.997 | D | 0.792 | deleterious | D | 0.586783217 | None | None | I |
| V/M | 0.8352 | likely_pathogenic | 0.7689 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| V/N | 0.979 | likely_pathogenic | 0.9777 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| V/P | 0.9639 | likely_pathogenic | 0.9677 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| V/Q | 0.985 | likely_pathogenic | 0.9854 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| V/R | 0.9792 | likely_pathogenic | 0.9835 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| V/S | 0.9463 | likely_pathogenic | 0.9421 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| V/T | 0.8981 | likely_pathogenic | 0.8378 | pathogenic | -1.945 | Destabilizing | 0.999 | D | 0.818 | deleterious | None | None | None | None | I |
| V/W | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| V/Y | 0.987 | likely_pathogenic | 0.9886 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
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.