Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26014 | 78265;78266;78267 | chr2:178568092;178568091;178568090 | chr2:179432819;179432818;179432817 |
| N2AB | 24373 | 73342;73343;73344 | chr2:178568092;178568091;178568090 | chr2:179432819;179432818;179432817 |
| N2A | 23446 | 70561;70562;70563 | chr2:178568092;178568091;178568090 | chr2:179432819;179432818;179432817 |
| N2B | 16949 | 51070;51071;51072 | chr2:178568092;178568091;178568090 | chr2:179432819;179432818;179432817 |
| Novex-1 | 17074 | 51445;51446;51447 | chr2:178568092;178568091;178568090 | chr2:179432819;179432818;179432817 |
| Novex-2 | 17141 | 51646;51647;51648 | chr2:178568092;178568091;178568090 | chr2:179432819;179432818;179432817 |
| 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/L | rs766846103  |
-0.934 | 1.0 | D | 0.875 | 0.737 | 0.916481694761 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| P/L | rs766846103 |
-0.934 | 1.0 | D | 0.875 | 0.737 | 0.916481694761 | gnomAD-4.0.0 | 8.21237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99594E-06 | 0 | 3.31433E-05 |
| P/Q | rs766846103 |
None | 1.0 | D | 0.809 | 0.755 | 0.814192286201 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/Q | rs766846103 |
None | 1.0 | D | 0.809 | 0.755 | 0.814192286201 | gnomAD-4.0.0 | 6.57739E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47115E-05 | 0 | 0 |
| P/T | rs751646451 |
-1.939 | 1.0 | D | 0.821 | 0.724 | 0.798483297613 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs751646451 |
-1.939 | 1.0 | D | 0.821 | 0.724 | 0.798483297613 | gnomAD-4.0.0 | 1.59201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77716E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.882 | likely_pathogenic | 0.8823 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.602956175 | None | None | N |
| P/C | 0.9883 | likely_pathogenic | 0.9873 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/D | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/E | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/G | 0.9884 | likely_pathogenic | 0.9897 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/H | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/I | 0.994 | likely_pathogenic | 0.9938 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/L | 0.974 | likely_pathogenic | 0.9775 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.647592509 | None | None | N |
| P/M | 0.9952 | likely_pathogenic | 0.9953 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/N | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/Q | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.632582169 | None | None | N |
| P/R | 0.996 | likely_pathogenic | 0.9967 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.632380365 | None | None | N |
| P/S | 0.9811 | likely_pathogenic | 0.9796 | pathogenic | -1.877 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.580496924 | None | None | N |
| P/T | 0.9736 | likely_pathogenic | 0.9746 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.606640449 | None | None | N |
| P/V | 0.9786 | likely_pathogenic | 0.9781 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.867 | 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.