Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34279 | 103060;103061;103062 | chr2:178533780;178533779;178533778 | chr2:179398507;179398506;179398505 |
| N2AB | 32638 | 98137;98138;98139 | chr2:178533780;178533779;178533778 | chr2:179398507;179398506;179398505 |
| N2A | 31711 | 95356;95357;95358 | chr2:178533780;178533779;178533778 | chr2:179398507;179398506;179398505 |
| N2B | 25214 | 75865;75866;75867 | chr2:178533780;178533779;178533778 | chr2:179398507;179398506;179398505 |
| Novex-1 | 25339 | 76240;76241;76242 | chr2:178533780;178533779;178533778 | chr2:179398507;179398506;179398505 |
| Novex-2 | 25406 | 76441;76442;76443 | chr2:178533780;178533779;178533778 | chr2:179398507;179398506;179398505 |
| 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 | rs779989647  |
-0.13 | 0.489 | N | 0.592 | 0.238 | 0.248417906384 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| V/I | rs779989647 |
-0.13 | 0.489 | N | 0.592 | 0.238 | 0.248417906384 | gnomAD-4.0.0 | 3.42077E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99413E-07 | 4.63725E-05 | 0 |
| V/L | rs779989647 |
None | 0.247 | N | 0.705 | 0.297 | 0.251639045875 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06697E-04 | 0 |
| V/L | rs779989647 |
None | 0.247 | N | 0.705 | 0.297 | 0.251639045875 | gnomAD-4.0.0 | 6.57039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06697E-04 | 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 | 0.6708 | likely_pathogenic | 0.76 | pathogenic | -1.693 | Destabilizing | 0.489 | N | 0.691 | prob.neutral | N | 0.443574746 | None | None | N |
| V/C | 0.9143 | likely_pathogenic | 0.9334 | pathogenic | -1.101 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| V/D | 0.9948 | likely_pathogenic | 0.9966 | pathogenic | -2.761 | Highly Destabilizing | 0.956 | D | 0.883 | deleterious | None | None | None | None | N |
| V/E | 0.9865 | likely_pathogenic | 0.9902 | pathogenic | -2.443 | Highly Destabilizing | 0.97 | D | 0.842 | deleterious | N | 0.481477419 | None | None | N |
| V/F | 0.8618 | likely_pathogenic | 0.9102 | pathogenic | -0.918 | Destabilizing | 0.956 | D | 0.787 | deleterious | None | None | None | None | N |
| V/G | 0.8495 | likely_pathogenic | 0.8977 | pathogenic | -2.306 | Highly Destabilizing | 0.014 | N | 0.705 | prob.neutral | N | 0.439090391 | None | None | N |
| V/H | 0.9972 | likely_pathogenic | 0.9982 | pathogenic | -2.406 | Highly Destabilizing | 0.998 | D | 0.876 | deleterious | None | None | None | None | N |
| V/I | 0.1429 | likely_benign | 0.1584 | benign | 0.073 | Stabilizing | 0.489 | N | 0.592 | neutral | N | 0.445722982 | None | None | N |
| V/K | 0.9911 | likely_pathogenic | 0.9928 | pathogenic | -1.273 | Destabilizing | 0.956 | D | 0.831 | deleterious | None | None | None | None | N |
| V/L | 0.7416 | likely_pathogenic | 0.7946 | pathogenic | 0.073 | Stabilizing | 0.247 | N | 0.705 | prob.neutral | N | 0.462359206 | None | None | N |
| V/M | 0.626 | likely_pathogenic | 0.7213 | pathogenic | -0.166 | Destabilizing | 0.559 | D | 0.585 | neutral | None | None | None | None | N |
| V/N | 0.9803 | likely_pathogenic | 0.9864 | pathogenic | -1.951 | Destabilizing | 0.956 | D | 0.885 | deleterious | None | None | None | None | N |
| V/P | 0.9966 | likely_pathogenic | 0.9976 | pathogenic | -0.495 | Destabilizing | 0.993 | D | 0.855 | deleterious | None | None | None | None | N |
| V/Q | 0.9867 | likely_pathogenic | 0.99 | pathogenic | -1.576 | Destabilizing | 0.978 | D | 0.849 | deleterious | None | None | None | None | N |
| V/R | 0.986 | likely_pathogenic | 0.989 | pathogenic | -1.551 | Destabilizing | 0.978 | D | 0.881 | deleterious | None | None | None | None | N |
| V/S | 0.889 | likely_pathogenic | 0.9314 | pathogenic | -2.443 | Highly Destabilizing | 0.956 | D | 0.826 | deleterious | None | None | None | None | N |
| V/T | 0.7628 | likely_pathogenic | 0.8231 | pathogenic | -1.956 | Destabilizing | 0.86 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/W | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -1.558 | Destabilizing | 0.998 | D | 0.874 | deleterious | None | None | None | None | N |
| V/Y | 0.9904 | likely_pathogenic | 0.9936 | pathogenic | -1.1 | Destabilizing | 0.978 | D | 0.763 | 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.