Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24936 | 75031;75032;75033 | chr2:178571326;178571325;178571324 | chr2:179436053;179436052;179436051 |
| N2AB | 23295 | 70108;70109;70110 | chr2:178571326;178571325;178571324 | chr2:179436053;179436052;179436051 |
| N2A | 22368 | 67327;67328;67329 | chr2:178571326;178571325;178571324 | chr2:179436053;179436052;179436051 |
| N2B | 15871 | 47836;47837;47838 | chr2:178571326;178571325;178571324 | chr2:179436053;179436052;179436051 |
| Novex-1 | 15996 | 48211;48212;48213 | chr2:178571326;178571325;178571324 | chr2:179436053;179436052;179436051 |
| Novex-2 | 16063 | 48412;48413;48414 | chr2:178571326;178571325;178571324 | chr2:179436053;179436052;179436051 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | D | 0.87 | 0.693 | 0.594679051289 | gnomAD-4.0.0 | 2.73732E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59838E-06 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.86 | 0.624 | 0.652085061847 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0259E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.902 | likely_pathogenic | 0.9256 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.524516234 | None | None | I |
| G/C | 0.9636 | likely_pathogenic | 0.9733 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/D | 0.9911 | likely_pathogenic | 0.9928 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/E | 0.9948 | likely_pathogenic | 0.9955 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.528782195 | None | None | I |
| G/F | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/H | 0.9952 | likely_pathogenic | 0.9963 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/I | 0.9965 | likely_pathogenic | 0.9973 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/K | 0.9962 | likely_pathogenic | 0.9967 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/L | 0.995 | likely_pathogenic | 0.9959 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/M | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/N | 0.9856 | likely_pathogenic | 0.9898 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/Q | 0.9934 | likely_pathogenic | 0.9945 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/R | 0.985 | likely_pathogenic | 0.9866 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.509032099 | None | None | I |
| G/S | 0.8559 | likely_pathogenic | 0.88 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/T | 0.9847 | likely_pathogenic | 0.9873 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/V | 0.9927 | likely_pathogenic | 0.9943 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.530303132 | None | None | I |
| G/W | 0.9933 | likely_pathogenic | 0.9946 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/Y | 0.9941 | likely_pathogenic | 0.9956 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
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.