Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23244 | 69955;69956;69957 | chr2:178576402;178576401;178576400 | chr2:179441129;179441128;179441127 |
| N2AB | 21603 | 65032;65033;65034 | chr2:178576402;178576401;178576400 | chr2:179441129;179441128;179441127 |
| N2A | 20676 | 62251;62252;62253 | chr2:178576402;178576401;178576400 | chr2:179441129;179441128;179441127 |
| N2B | 14179 | 42760;42761;42762 | chr2:178576402;178576401;178576400 | chr2:179441129;179441128;179441127 |
| Novex-1 | 14304 | 43135;43136;43137 | chr2:178576402;178576401;178576400 | chr2:179441129;179441128;179441127 |
| Novex-2 | 14371 | 43336;43337;43338 | chr2:178576402;178576401;178576400 | chr2:179441129;179441128;179441127 |
| 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 | rs879056292  |
-0.272 | 1.0 | D | 0.899 | 0.711 | 0.878013198513 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/L | rs879056292 |
-0.272 | 1.0 | D | 0.899 | 0.711 | 0.878013198513 | 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/L | rs879056292 |
-0.272 | 1.0 | D | 0.899 | 0.711 | 0.878013198513 | gnomAD-4.0.0 | 1.9125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.57585E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8115 | likely_pathogenic | 0.7321 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.514190109 | None | None | N |
| P/C | 0.9796 | likely_pathogenic | 0.9684 | pathogenic | -2.138 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.939 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/E | 0.9983 | likely_pathogenic | 0.9972 | pathogenic | -2.727 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/G | 0.9944 | likely_pathogenic | 0.9902 | pathogenic | -2.688 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/H | 0.9974 | likely_pathogenic | 0.9956 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.565402228 | None | None | N |
| P/I | 0.9387 | likely_pathogenic | 0.9201 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.8921 | likely_pathogenic | 0.8652 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.563627802 | None | None | N |
| P/M | 0.9877 | likely_pathogenic | 0.9818 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/N | 0.9989 | likely_pathogenic | 0.9981 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/Q | 0.9959 | likely_pathogenic | 0.9936 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/R | 0.9944 | likely_pathogenic | 0.9915 | pathogenic | -1.639 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.564895249 | None | None | N |
| P/S | 0.9817 | likely_pathogenic | 0.9676 | pathogenic | -2.765 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.547044484 | None | None | N |
| P/T | 0.9564 | likely_pathogenic | 0.9202 | pathogenic | -2.405 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.51863388 | None | None | N |
| P/V | 0.8381 | likely_pathogenic | 0.7845 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.923 | 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.