Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26281 | 79066;79067;79068 | chr2:178567291;178567290;178567289 | chr2:179432018;179432017;179432016 |
| N2AB | 24640 | 74143;74144;74145 | chr2:178567291;178567290;178567289 | chr2:179432018;179432017;179432016 |
| N2A | 23713 | 71362;71363;71364 | chr2:178567291;178567290;178567289 | chr2:179432018;179432017;179432016 |
| N2B | 17216 | 51871;51872;51873 | chr2:178567291;178567290;178567289 | chr2:179432018;179432017;179432016 |
| Novex-1 | 17341 | 52246;52247;52248 | chr2:178567291;178567290;178567289 | chr2:179432018;179432017;179432016 |
| Novex-2 | 17408 | 52447;52448;52449 | chr2:178567291;178567290;178567289 | chr2:179432018;179432017;179432016 |
| 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/I | rs747681662  |
-0.019 | 0.997 | N | 0.564 | 0.202 | 0.517655672 | gnomAD-2.1.1 | 1.65E-05 | None | None | None | None | N | None | 0 | 3E-05 | None | 0 | 0 | None | 0 | None | 1.41683E-04 | 0 | 0 |
| V/I | rs747681662 |
-0.019 | 0.997 | N | 0.564 | 0.202 | 0.517655672 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 3.76932E-04 | 0 | 0 | 0 | 0 |
| V/I | rs747681662 |
-0.019 | 0.997 | N | 0.564 | 0.202 | 0.517655672 | gnomAD-4.0.0 | 7.755E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.4512E-05 | 0 | 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 | 0.9247 | likely_pathogenic | 0.9208 | pathogenic | -2.055 | Highly Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.518508164 | None | None | N |
| V/C | 0.943 | likely_pathogenic | 0.9395 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| V/D | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.694 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/E | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -2.414 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.530371449 | None | None | N |
| V/F | 0.8773 | likely_pathogenic | 0.8671 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/G | 0.9586 | likely_pathogenic | 0.9623 | pathogenic | -2.664 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.530371449 | None | None | N |
| V/H | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/I | 0.1045 | likely_benign | 0.1019 | benign | -0.328 | Destabilizing | 0.997 | D | 0.564 | neutral | N | 0.511603184 | None | None | N |
| V/K | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/L | 0.6409 | likely_pathogenic | 0.634 | pathogenic | -0.328 | Destabilizing | 0.997 | D | 0.659 | neutral | N | 0.463523156 | None | None | N |
| V/M | 0.7544 | likely_pathogenic | 0.747 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| V/N | 0.9966 | likely_pathogenic | 0.9968 | pathogenic | -2.252 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/P | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/Q | 0.997 | likely_pathogenic | 0.997 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/R | 0.9954 | likely_pathogenic | 0.9956 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/S | 0.9868 | likely_pathogenic | 0.9874 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/T | 0.944 | likely_pathogenic | 0.9434 | pathogenic | -2.448 | Highly Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| V/W | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/Y | 0.9939 | likely_pathogenic | 0.9934 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.831 | 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.