Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33587 | 100984;100985;100986 | chr2:178535988;178535987;178535986 | chr2:179400715;179400714;179400713 |
| N2AB | 31946 | 96061;96062;96063 | chr2:178535988;178535987;178535986 | chr2:179400715;179400714;179400713 |
| N2A | 31019 | 93280;93281;93282 | chr2:178535988;178535987;178535986 | chr2:179400715;179400714;179400713 |
| N2B | 24522 | 73789;73790;73791 | chr2:178535988;178535987;178535986 | chr2:179400715;179400714;179400713 |
| Novex-1 | 24647 | 74164;74165;74166 | chr2:178535988;178535987;178535986 | chr2:179400715;179400714;179400713 |
| Novex-2 | 24714 | 74365;74366;74367 | chr2:178535988;178535987;178535986 | chr2:179400715;179400714;179400713 |
| 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 | None | None | 1.0 | D | 0.765 | 0.872 | 0.789012101798 | gnomAD-4.0.0 | 4.80155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25028E-06 | 0 | 0 |
| V/M | rs1401200720  |
-1.551 | 1.0 | D | 0.879 | 0.773 | 0.767170172808 | gnomAD-2.1.1 | 5.49E-06 | None | None | None | None | N | None | 0 | 4.6E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs1401200720 |
-1.551 | 1.0 | D | 0.879 | 0.773 | 0.767170172808 | gnomAD-4.0.0 | 1.8355E-06 | None | None | None | None | N | None | 0 | 3.42185E-05 | None | 0 | 0 | None | 0 | 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 | 0.8847 | likely_pathogenic | 0.8653 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.626194026 | None | None | N |
| V/C | 0.9835 | likely_pathogenic | 0.984 | pathogenic | -1.587 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| V/D | 0.998 | likely_pathogenic | 0.9969 | pathogenic | -2.427 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/E | 0.9934 | likely_pathogenic | 0.9901 | pathogenic | -2.361 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.644059986 | None | None | N |
| V/F | 0.9785 | likely_pathogenic | 0.9566 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/G | 0.9391 | likely_pathogenic | 0.9255 | pathogenic | -2.341 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.644059986 | None | None | N |
| V/H | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/I | 0.1627 | likely_benign | 0.158 | benign | -0.968 | Destabilizing | 0.996 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/K | 0.9955 | likely_pathogenic | 0.9919 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/L | 0.9101 | likely_pathogenic | 0.8864 | pathogenic | -0.968 | Destabilizing | 0.995 | D | 0.778 | deleterious | D | 0.582375628 | None | None | N |
| V/M | 0.8957 | likely_pathogenic | 0.8603 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.61832007 | None | None | N |
| V/N | 0.9923 | likely_pathogenic | 0.9882 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/P | 0.9865 | likely_pathogenic | 0.9882 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/Q | 0.9964 | likely_pathogenic | 0.9936 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/R | 0.994 | likely_pathogenic | 0.9886 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/S | 0.9751 | likely_pathogenic | 0.9659 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/T | 0.872 | likely_pathogenic | 0.8523 | pathogenic | -1.969 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/W | 0.9996 | likely_pathogenic | 0.9991 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/Y | 0.9977 | likely_pathogenic | 0.9941 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.889 | 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.