Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21761 | 65506;65507;65508 | chr2:178583901;178583900;178583899 | chr2:179448628;179448627;179448626 |
| N2AB | 20120 | 60583;60584;60585 | chr2:178583901;178583900;178583899 | chr2:179448628;179448627;179448626 |
| N2A | 19193 | 57802;57803;57804 | chr2:178583901;178583900;178583899 | chr2:179448628;179448627;179448626 |
| N2B | 12696 | 38311;38312;38313 | chr2:178583901;178583900;178583899 | chr2:179448628;179448627;179448626 |
| Novex-1 | 12821 | 38686;38687;38688 | chr2:178583901;178583900;178583899 | chr2:179448628;179448627;179448626 |
| Novex-2 | 12888 | 38887;38888;38889 | chr2:178583901;178583900;178583899 | chr2:179448628;179448627;179448626 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs762680180  |
-2.698 | 1.0 | D | 0.838 | 0.661 | 0.725415004338 | gnomAD-2.1.1 | 1.98E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.31085E-04 | None | 0 | 1.11E-05 | 0 |
| P/S | rs762680180 |
-2.698 | 1.0 | D | 0.838 | 0.661 | 0.725415004338 | gnomAD-4.0.0 | 1.13205E-05 | None | None | None | None | N | None | 3.10308E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.5346E-06 | 1.13826E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8667 | likely_pathogenic | 0.812 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.642713461 | None | None | N |
| P/C | 0.9829 | likely_pathogenic | 0.9758 | pathogenic | -2.038 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -3.307 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/E | 0.9979 | likely_pathogenic | 0.997 | pathogenic | -3.09 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/G | 0.995 | likely_pathogenic | 0.9922 | pathogenic | -2.627 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/H | 0.9978 | likely_pathogenic | 0.9965 | pathogenic | -2.338 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.643318874 | None | None | N |
| P/I | 0.9825 | likely_pathogenic | 0.9694 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/L | 0.9566 | likely_pathogenic | 0.925 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.617377154 | None | None | N |
| P/M | 0.9944 | likely_pathogenic | 0.9895 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Q | 0.9969 | likely_pathogenic | 0.9947 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/R | 0.9948 | likely_pathogenic | 0.9927 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.627097709 | None | None | N |
| P/S | 0.9892 | likely_pathogenic | 0.9828 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.617377154 | None | None | N |
| P/T | 0.9787 | likely_pathogenic | 0.9665 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.64311707 | None | None | N |
| P/V | 0.9439 | likely_pathogenic | 0.9136 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.921 | 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.