Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3963 | 12112;12113;12114 | chr2:178741346;178741345;178741344 | chr2:179606073;179606072;179606071 |
| N2AB | 3646 | 11161;11162;11163 | chr2:178741346;178741345;178741344 | chr2:179606073;179606072;179606071 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3600 | 11023;11024;11025 | chr2:178741346;178741345;178741344 | chr2:179606073;179606072;179606071 |
| Novex-1 | 3725 | 11398;11399;11400 | chr2:178741346;178741345;178741344 | chr2:179606073;179606072;179606071 |
| Novex-2 | 3792 | 11599;11600;11601 | chr2:178741346;178741345;178741344 | chr2:179606073;179606072;179606071 |
| 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/R | rs1000514079  |
None | 1.0 | D | 0.828 | 0.618 | 0.476754456241 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1000514079 |
None | 1.0 | D | 0.828 | 0.618 | 0.476754456241 | gnomAD-4.0.0 | 6.57298E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46981E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7038 | likely_pathogenic | 0.6412 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.652456026 | None | None | I |
| G/C | 0.9336 | likely_pathogenic | 0.8783 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/D | 0.9793 | likely_pathogenic | 0.9577 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/E | 0.9808 | likely_pathogenic | 0.9595 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.834484049 | None | None | I |
| G/F | 0.9943 | likely_pathogenic | 0.9873 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/H | 0.9963 | likely_pathogenic | 0.9908 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/I | 0.9869 | likely_pathogenic | 0.9715 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9947 | likely_pathogenic | 0.9883 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/L | 0.9874 | likely_pathogenic | 0.975 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/M | 0.994 | likely_pathogenic | 0.986 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/N | 0.9898 | likely_pathogenic | 0.9767 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/P | 0.997 | likely_pathogenic | 0.9943 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/Q | 0.9902 | likely_pathogenic | 0.9798 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/R | 0.9809 | likely_pathogenic | 0.961 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.829158833 | None | None | I |
| G/S | 0.7547 | likely_pathogenic | 0.6262 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/T | 0.9536 | likely_pathogenic | 0.9164 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/V | 0.9682 | likely_pathogenic | 0.9381 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.829158833 | None | None | I |
| G/W | 0.9842 | likely_pathogenic | 0.964 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9929 | likely_pathogenic | 0.9836 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.775 | 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.