Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29865 | 89818;89819;89820 | chr2:178553307;178553306;178553305 | chr2:179418034;179418033;179418032 |
| N2AB | 28224 | 84895;84896;84897 | chr2:178553307;178553306;178553305 | chr2:179418034;179418033;179418032 |
| N2A | 27297 | 82114;82115;82116 | chr2:178553307;178553306;178553305 | chr2:179418034;179418033;179418032 |
| N2B | 20800 | 62623;62624;62625 | chr2:178553307;178553306;178553305 | chr2:179418034;179418033;179418032 |
| Novex-1 | 20925 | 62998;62999;63000 | chr2:178553307;178553306;178553305 | chr2:179418034;179418033;179418032 |
| Novex-2 | 20992 | 63199;63200;63201 | chr2:178553307;178553306;178553305 | chr2:179418034;179418033;179418032 |
| 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 | None | None | 1.0 | D | 0.83 | 0.832 | 0.821288708293 | gnomAD-4.0.0 | 1.37457E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79906E-06 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.843 | 0.807 | 0.596456784696 | gnomAD-4.0.0 | 1.37457E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31927E-05 | 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 | 0.8022 | likely_pathogenic | 0.7564 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.579716478 | None | None | I |
| G/C | 0.9707 | likely_pathogenic | 0.9618 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.66554596 | None | None | I |
| G/D | 0.9944 | likely_pathogenic | 0.9932 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.648315773 | None | None | I |
| G/E | 0.9965 | likely_pathogenic | 0.9959 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/F | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/H | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/I | 0.995 | likely_pathogenic | 0.9946 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/K | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/L | 0.9956 | likely_pathogenic | 0.9942 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.9978 | likely_pathogenic | 0.997 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| G/N | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/Q | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/R | 0.9964 | likely_pathogenic | 0.996 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.64912299 | None | None | I |
| G/S | 0.9217 | likely_pathogenic | 0.9035 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.584904463 | None | None | I |
| G/T | 0.9889 | likely_pathogenic | 0.9868 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/V | 0.9838 | likely_pathogenic | 0.9818 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.64912299 | None | None | I |
| G/W | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9969 | likely_pathogenic | 0.9963 | pathogenic | -0.867 | 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.