Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18789 | 56590;56591;56592 | chr2:178599428;178599427;178599426 | chr2:179464155;179464154;179464153 |
| N2AB | 17148 | 51667;51668;51669 | chr2:178599428;178599427;178599426 | chr2:179464155;179464154;179464153 |
| N2A | 16221 | 48886;48887;48888 | chr2:178599428;178599427;178599426 | chr2:179464155;179464154;179464153 |
| N2B | 9724 | 29395;29396;29397 | chr2:178599428;178599427;178599426 | chr2:179464155;179464154;179464153 |
| Novex-1 | 9849 | 29770;29771;29772 | chr2:178599428;178599427;178599426 | chr2:179464155;179464154;179464153 |
| Novex-2 | 9916 | 29971;29972;29973 | chr2:178599428;178599427;178599426 | chr2:179464155;179464154;179464153 |
| 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 | rs377635048  |
-1.595 | 0.565 | N | 0.615 | 0.07 | None | gnomAD-2.1.1 | 8.85E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.85E-05 | 0 |
| V/A | rs377635048 |
-1.595 | 0.565 | N | 0.615 | 0.07 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.36E-05 | 0 | 0 |
| V/A | rs377635048 |
-1.595 | 0.565 | N | 0.615 | 0.07 | None | gnomAD-4.0.0 | 8.40602E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.13104E-05 | 0 | 0 |
| V/G | None | None | 0.901 | N | 0.735 | 0.222 | 0.520963378925 | gnomAD-4.0.0 | 7.17141E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.24712E-07 | 0 | 0 |
| V/M | None | None | 0.901 | N | 0.622 | 0.178 | 0.27855597813 | gnomAD-4.0.0 | 7.17812E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.83554E-04 | 0 | 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 | 0.0867 | likely_benign | 0.0833 | benign | -1.403 | Destabilizing | 0.565 | D | 0.615 | neutral | N | 0.474173451 | None | None | N |
| V/C | 0.559 | ambiguous | 0.5457 | ambiguous | -0.739 | Destabilizing | 0.996 | D | 0.653 | neutral | None | None | None | None | N |
| V/D | 0.2465 | likely_benign | 0.1848 | benign | -1.403 | Destabilizing | 0.858 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/E | 0.1585 | likely_benign | 0.1189 | benign | -1.345 | Destabilizing | 0.018 | N | 0.635 | neutral | N | 0.429345239 | None | None | N |
| V/F | 0.1933 | likely_benign | 0.1861 | benign | -0.912 | Destabilizing | 0.923 | D | 0.655 | neutral | None | None | None | None | N |
| V/G | 0.1456 | likely_benign | 0.1329 | benign | -1.757 | Destabilizing | 0.901 | D | 0.735 | prob.delet. | N | 0.447392282 | None | None | N |
| V/H | 0.4652 | ambiguous | 0.4145 | ambiguous | -1.335 | Destabilizing | 0.989 | D | 0.779 | deleterious | None | None | None | None | N |
| V/I | 0.078 | likely_benign | 0.0794 | benign | -0.503 | Destabilizing | 0.011 | N | 0.425 | neutral | None | None | None | None | N |
| V/K | 0.2574 | likely_benign | 0.1987 | benign | -1.262 | Destabilizing | 0.858 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/L | 0.1538 | likely_benign | 0.1405 | benign | -0.503 | Destabilizing | 0.156 | N | 0.62 | neutral | N | 0.496183519 | None | None | N |
| V/M | 0.1205 | likely_benign | 0.1161 | benign | -0.375 | Destabilizing | 0.901 | D | 0.622 | neutral | N | 0.471550276 | None | None | N |
| V/N | 0.2043 | likely_benign | 0.1663 | benign | -1.108 | Destabilizing | 0.923 | D | 0.784 | deleterious | None | None | None | None | N |
| V/P | 0.6742 | likely_pathogenic | 0.6351 | pathogenic | -0.771 | Destabilizing | 0.961 | D | 0.743 | deleterious | None | None | None | None | N |
| V/Q | 0.2162 | likely_benign | 0.1732 | benign | -1.187 | Destabilizing | 0.858 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/R | 0.228 | likely_benign | 0.1841 | benign | -0.828 | Destabilizing | 0.923 | D | 0.782 | deleterious | None | None | None | None | N |
| V/S | 0.1118 | likely_benign | 0.1002 | benign | -1.596 | Destabilizing | 0.858 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/T | 0.0822 | likely_benign | 0.0873 | benign | -1.429 | Destabilizing | 0.775 | D | 0.627 | neutral | None | None | None | None | N |
| V/W | 0.7718 | likely_pathogenic | 0.7601 | pathogenic | -1.212 | Destabilizing | 0.996 | D | 0.785 | deleterious | None | None | None | None | N |
| V/Y | 0.4895 | ambiguous | 0.446 | ambiguous | -0.886 | Destabilizing | 0.961 | D | 0.649 | neutral | 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.