Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28823 | 86692;86693;86694 | chr2:178559665;178559664;178559663 | chr2:179424392;179424391;179424390 |
| N2AB | 27182 | 81769;81770;81771 | chr2:178559665;178559664;178559663 | chr2:179424392;179424391;179424390 |
| N2A | 26255 | 78988;78989;78990 | chr2:178559665;178559664;178559663 | chr2:179424392;179424391;179424390 |
| N2B | 19758 | 59497;59498;59499 | chr2:178559665;178559664;178559663 | chr2:179424392;179424391;179424390 |
| Novex-1 | 19883 | 59872;59873;59874 | chr2:178559665;178559664;178559663 | chr2:179424392;179424391;179424390 |
| Novex-2 | 19950 | 60073;60074;60075 | chr2:178559665;178559664;178559663 | chr2:179424392;179424391;179424390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/N | rs1702876346  |
None | 1.0 | D | 0.85 | 0.879 | 0.857373418812 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/N | rs1702876346 |
None | 1.0 | D | 0.85 | 0.879 | 0.857373418812 | gnomAD-4.0.0 | 3.7205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23965E-06 | 0 | 1.602E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| Y/C | 0.9891 | likely_pathogenic | 0.987 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.632064248 | None | None | N |
| Y/D | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.421 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.632064248 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/F | 0.3593 | ambiguous | 0.2953 | benign | -0.536 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | D | 0.553230066 | None | None | N |
| Y/G | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/H | 0.9918 | likely_pathogenic | 0.9905 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.631862443 | None | None | N |
| Y/I | 0.978 | likely_pathogenic | 0.9739 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| Y/L | 0.9579 | likely_pathogenic | 0.9541 | pathogenic | -0.433 | Destabilizing | 0.999 | D | 0.768 | deleterious | None | None | None | None | N |
| Y/M | 0.991 | likely_pathogenic | 0.9889 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| Y/N | 0.993 | likely_pathogenic | 0.9936 | pathogenic | -2.518 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.632064248 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| Y/R | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/S | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.632064248 | None | None | N |
| Y/T | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.479 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/V | 0.976 | likely_pathogenic | 0.9714 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| Y/W | 0.9182 | likely_pathogenic | 0.9029 | pathogenic | 0.058 | Stabilizing | 1.0 | D | 0.793 | 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.