Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21270 | 64033;64034;64035 | chr2:178587403;178587402;178587401 | chr2:179452130;179452129;179452128 |
| N2AB | 19629 | 59110;59111;59112 | chr2:178587403;178587402;178587401 | chr2:179452130;179452129;179452128 |
| N2A | 18702 | 56329;56330;56331 | chr2:178587403;178587402;178587401 | chr2:179452130;179452129;179452128 |
| N2B | 12205 | 36838;36839;36840 | chr2:178587403;178587402;178587401 | chr2:179452130;179452129;179452128 |
| Novex-1 | 12330 | 37213;37214;37215 | chr2:178587403;178587402;178587401 | chr2:179452130;179452129;179452128 |
| Novex-2 | 12397 | 37414;37415;37416 | chr2:178587403;178587402;178587401 | chr2:179452130;179452129;179452128 |
| 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 | rs770388612  |
-2.432 | 0.999 | N | 0.822 | 0.38 | 0.461058313273 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.35E-05 | None | 0 | 0 | 0 |
| V/A | rs770388612 |
-2.432 | 0.999 | N | 0.822 | 0.38 | 0.461058313273 | 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/A | rs770388612 |
-2.432 | 0.999 | N | 0.822 | 0.38 | 0.461058313273 | gnomAD-4.0.0 | 4.34837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.09398E-06 | 1.10397E-05 | 0 |
| V/M | rs773891427 |
-1.049 | 1.0 | N | 0.842 | 0.383 | 0.384752662912 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.35E-05 | None | 0 | 0 | 0 |
| V/M | rs773891427 |
-1.049 | 1.0 | N | 0.842 | 0.383 | 0.384752662912 | gnomAD-4.0.0 | 1.60165E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44354E-05 | 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 | 0.4221 | ambiguous | 0.4628 | ambiguous | -2.032 | Highly Destabilizing | 0.999 | D | 0.822 | deleterious | N | 0.478746978 | None | None | N |
| V/C | 0.8459 | likely_pathogenic | 0.8415 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/D | 0.988 | likely_pathogenic | 0.9898 | pathogenic | -2.883 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/E | 0.9781 | likely_pathogenic | 0.9809 | pathogenic | -2.692 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | N | 0.519497522 | None | None | N |
| V/F | 0.8901 | likely_pathogenic | 0.9045 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/G | 0.7736 | likely_pathogenic | 0.8009 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | N | 0.49003879 | None | None | N |
| V/H | 0.9944 | likely_pathogenic | 0.9955 | pathogenic | -2.321 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| V/I | 0.1332 | likely_benign | 0.1535 | benign | -0.613 | Destabilizing | 0.998 | D | 0.684 | prob.neutral | None | None | None | None | N |
| V/K | 0.9901 | likely_pathogenic | 0.9909 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/L | 0.5874 | likely_pathogenic | 0.6434 | pathogenic | -0.613 | Destabilizing | 0.997 | D | 0.812 | deleterious | N | 0.471681045 | None | None | N |
| V/M | 0.6496 | likely_pathogenic | 0.715 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.49003879 | None | None | N |
| V/N | 0.9539 | likely_pathogenic | 0.9644 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| V/P | 0.3704 | ambiguous | 0.3511 | ambiguous | -1.058 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| V/Q | 0.9805 | likely_pathogenic | 0.983 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| V/R | 0.9836 | likely_pathogenic | 0.984 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| V/S | 0.7855 | likely_pathogenic | 0.8277 | pathogenic | -2.582 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/T | 0.6164 | likely_pathogenic | 0.6728 | pathogenic | -2.25 | Highly Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| V/W | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| V/Y | 0.9915 | likely_pathogenic | 0.993 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.855 | 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.