Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16229 | 48910;48911;48912 | chr2:178614922;178614921;178614920 | chr2:179479649;179479648;179479647 |
| N2AB | 14588 | 43987;43988;43989 | chr2:178614922;178614921;178614920 | chr2:179479649;179479648;179479647 |
| N2A | 13661 | 41206;41207;41208 | chr2:178614922;178614921;178614920 | chr2:179479649;179479648;179479647 |
| N2B | 7164 | 21715;21716;21717 | chr2:178614922;178614921;178614920 | chr2:179479649;179479648;179479647 |
| Novex-1 | 7289 | 22090;22091;22092 | chr2:178614922;178614921;178614920 | chr2:179479649;179479648;179479647 |
| Novex-2 | 7356 | 22291;22292;22293 | chr2:178614922;178614921;178614920 | chr2:179479649;179479648;179479647 |
| 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 | None | None | 0.999 | D | 0.637 | 0.536 | 0.764336710106 | gnomAD-4.0.0 | 6.94107E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.2036E-05 | 0 |
| V/M | rs758130661  |
-1.294 | 1.0 | D | 0.767 | 0.559 | None | gnomAD-2.1.1 | 2.8E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.25E-05 | 0 |
| V/M | rs758130661 |
-1.294 | 1.0 | D | 0.767 | 0.559 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| V/M | rs758130661 |
-1.294 | 1.0 | D | 0.767 | 0.559 | None | gnomAD-4.0.0 | 4.70943E-05 | None | None | None | None | N | None | 4.02307E-05 | 0 | None | 0 | 1.82058E-04 | None | 0 | 0 | 5.30635E-05 | 1.13758E-05 | 1.62106E-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 | 0.9434 | likely_pathogenic | 0.9286 | pathogenic | -2.49 | Highly Destabilizing | 0.999 | D | 0.621 | neutral | D | 0.795422081 | None | None | N |
| V/C | 0.9786 | likely_pathogenic | 0.977 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| V/D | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -3.544 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/E | 0.9977 | likely_pathogenic | 0.9963 | pathogenic | -3.267 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.848791064 | None | None | N |
| V/F | 0.9818 | likely_pathogenic | 0.9706 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| V/G | 0.968 | likely_pathogenic | 0.9541 | pathogenic | -3.051 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.848791064 | None | None | N |
| V/H | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.901 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/I | 0.149 | likely_benign | 0.1353 | benign | -0.87 | Destabilizing | 0.998 | D | 0.607 | neutral | None | None | None | None | N |
| V/K | 0.9986 | likely_pathogenic | 0.9978 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/L | 0.9175 | likely_pathogenic | 0.8786 | pathogenic | -0.87 | Destabilizing | 0.999 | D | 0.637 | neutral | D | 0.668326423 | None | None | N |
| V/M | 0.949 | likely_pathogenic | 0.9333 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.727983724 | None | None | N |
| V/N | 0.998 | likely_pathogenic | 0.997 | pathogenic | -2.718 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/P | 0.9983 | likely_pathogenic | 0.9969 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/Q | 0.9976 | likely_pathogenic | 0.9964 | pathogenic | -2.454 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/R | 0.9962 | likely_pathogenic | 0.9939 | pathogenic | -2.047 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/S | 0.9886 | likely_pathogenic | 0.9853 | pathogenic | -3.23 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/T | 0.9683 | likely_pathogenic | 0.9643 | pathogenic | -2.815 | Highly Destabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| V/W | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/Y | 0.9986 | likely_pathogenic | 0.9978 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.809 | 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.