Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32520 | 97783;97784;97785 | chr2:178541519;178541518;178541517 | chr2:179406246;179406245;179406244 |
| N2AB | 30879 | 92860;92861;92862 | chr2:178541519;178541518;178541517 | chr2:179406246;179406245;179406244 |
| N2A | 29952 | 90079;90080;90081 | chr2:178541519;178541518;178541517 | chr2:179406246;179406245;179406244 |
| N2B | 23455 | 70588;70589;70590 | chr2:178541519;178541518;178541517 | chr2:179406246;179406245;179406244 |
| Novex-1 | 23580 | 70963;70964;70965 | chr2:178541519;178541518;178541517 | chr2:179406246;179406245;179406244 |
| Novex-2 | 23647 | 71164;71165;71166 | chr2:178541519;178541518;178541517 | chr2:179406246;179406245;179406244 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | rs1694490172  |
None | 1.0 | D | 0.873 | 0.871 | 0.934092718198 | gnomAD-4.0.0 | 2.73824E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59904E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9886 | likely_pathogenic | 0.9878 | pathogenic | -3.526 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/C | 0.9917 | likely_pathogenic | 0.9876 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.664552991 | None | None | N |
| W/D | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.952 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.842 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/F | 0.7174 | likely_pathogenic | 0.6413 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/G | 0.9537 | likely_pathogenic | 0.9476 | pathogenic | -3.754 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.664552991 | None | None | N |
| W/H | 0.9949 | likely_pathogenic | 0.9937 | pathogenic | -2.768 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/I | 0.9815 | likely_pathogenic | 0.9802 | pathogenic | -2.626 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.0 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/L | 0.967 | likely_pathogenic | 0.9657 | pathogenic | -2.626 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.663342165 | None | None | N |
| W/M | 0.9928 | likely_pathogenic | 0.9919 | pathogenic | -1.987 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/N | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -3.727 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| W/P | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -2.958 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.569 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/R | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -2.669 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.664552991 | None | None | N |
| W/S | 0.9839 | likely_pathogenic | 0.9832 | pathogenic | -3.812 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.64853363 | None | None | N |
| W/T | 0.9933 | likely_pathogenic | 0.9928 | pathogenic | -3.631 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/V | 0.9808 | likely_pathogenic | 0.9778 | pathogenic | -2.958 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/Y | 0.9144 | likely_pathogenic | 0.8856 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.81 | 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.