Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26359 | 79300;79301;79302 | chr2:178567057;178567056;178567055 | chr2:179431784;179431783;179431782 |
| N2AB | 24718 | 74377;74378;74379 | chr2:178567057;178567056;178567055 | chr2:179431784;179431783;179431782 |
| N2A | 23791 | 71596;71597;71598 | chr2:178567057;178567056;178567055 | chr2:179431784;179431783;179431782 |
| N2B | 17294 | 52105;52106;52107 | chr2:178567057;178567056;178567055 | chr2:179431784;179431783;179431782 |
| Novex-1 | 17419 | 52480;52481;52482 | chr2:178567057;178567056;178567055 | chr2:179431784;179431783;179431782 |
| Novex-2 | 17486 | 52681;52682;52683 | chr2:178567057;178567056;178567055 | chr2:179431784;179431783;179431782 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs764833155  |
-1.811 | 0.999 | N | 0.659 | 0.572 | 0.628821965753 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.94118E-04 | None | 0 | 0 | 0 |
| F/L | rs764833155 |
-1.811 | 0.999 | N | 0.659 | 0.572 | 0.628821965753 | gnomAD-4.0.0 | 1.7107E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.89842E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/C | 0.9858 | likely_pathogenic | 0.9827 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.564912843 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.017 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.762 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/G | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.463 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| F/H | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| F/I | 0.9337 | likely_pathogenic | 0.9188 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.507821239 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.911 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| F/L | 0.993 | likely_pathogenic | 0.9919 | pathogenic | -0.463 | Destabilizing | 0.999 | D | 0.659 | neutral | N | 0.509747023 | None | None | N |
| F/M | 0.9705 | likely_pathogenic | 0.9684 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.68 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.342 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/R | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.055 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/S | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -3.046 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.564912843 | None | None | N |
| F/T | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -2.656 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/V | 0.9435 | likely_pathogenic | 0.9359 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.490358412 | None | None | N |
| F/W | 0.9671 | likely_pathogenic | 0.9654 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/Y | 0.9165 | likely_pathogenic | 0.9017 | pathogenic | -0.507 | Destabilizing | 0.999 | D | 0.579 | neutral | N | 0.521511856 | 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.