Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22351 | 67276;67277;67278 | chr2:178580328;178580327;178580326 | chr2:179445055;179445054;179445053 |
| N2AB | 20710 | 62353;62354;62355 | chr2:178580328;178580327;178580326 | chr2:179445055;179445054;179445053 |
| N2A | 19783 | 59572;59573;59574 | chr2:178580328;178580327;178580326 | chr2:179445055;179445054;179445053 |
| N2B | 13286 | 40081;40082;40083 | chr2:178580328;178580327;178580326 | chr2:179445055;179445054;179445053 |
| Novex-1 | 13411 | 40456;40457;40458 | chr2:178580328;178580327;178580326 | chr2:179445055;179445054;179445053 |
| Novex-2 | 13478 | 40657;40658;40659 | chr2:178580328;178580327;178580326 | chr2:179445055;179445054;179445053 |
| 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 | rs764048936  |
-0.885 | 0.997 | D | 0.775 | 0.734 | 0.806824881749 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/L | rs764048936 |
-0.885 | 0.997 | D | 0.775 | 0.734 | 0.806824881749 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs764048936 |
-0.885 | 0.997 | D | 0.775 | 0.734 | 0.806824881749 | gnomAD-4.0.0 | 7.44266E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48002E-06 | 0 | 3.20533E-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 | 0.9776 | likely_pathogenic | 0.9836 | pathogenic | -1.961 | Destabilizing | 0.999 | D | 0.76 | deleterious | D | 0.613642878 | None | None | N |
| V/C | 0.9895 | likely_pathogenic | 0.9906 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/D | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.133 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/E | 0.9965 | likely_pathogenic | 0.9975 | pathogenic | -2.04 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.61424829 | None | None | N |
| V/F | 0.9841 | likely_pathogenic | 0.989 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/G | 0.9726 | likely_pathogenic | 0.9816 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.61424829 | None | None | N |
| V/H | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| V/I | 0.1918 | likely_benign | 0.1845 | benign | -0.857 | Destabilizing | 0.998 | D | 0.742 | deleterious | None | None | None | None | N |
| V/K | 0.9975 | likely_pathogenic | 0.9985 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/L | 0.9621 | likely_pathogenic | 0.967 | pathogenic | -0.857 | Destabilizing | 0.997 | D | 0.775 | deleterious | D | 0.611624835 | None | None | N |
| V/M | 0.9721 | likely_pathogenic | 0.9747 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.613844682 | None | None | N |
| V/N | 0.9919 | likely_pathogenic | 0.9942 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/P | 0.995 | likely_pathogenic | 0.9971 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| V/Q | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/R | 0.9954 | likely_pathogenic | 0.9973 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/S | 0.9883 | likely_pathogenic | 0.9913 | pathogenic | -2.236 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/T | 0.9718 | likely_pathogenic | 0.9762 | pathogenic | -2.028 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| V/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| V/Y | 0.997 | likely_pathogenic | 0.9982 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.879 | 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.