Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34443 | 103552;103553;103554 | chr2:178533288;178533287;178533286 | chr2:179398015;179398014;179398013 |
| N2AB | 32802 | 98629;98630;98631 | chr2:178533288;178533287;178533286 | chr2:179398015;179398014;179398013 |
| N2A | 31875 | 95848;95849;95850 | chr2:178533288;178533287;178533286 | chr2:179398015;179398014;179398013 |
| N2B | 25378 | 76357;76358;76359 | chr2:178533288;178533287;178533286 | chr2:179398015;179398014;179398013 |
| Novex-1 | 25503 | 76732;76733;76734 | chr2:178533288;178533287;178533286 | chr2:179398015;179398014;179398013 |
| Novex-2 | 25570 | 76933;76934;76935 | chr2:178533288;178533287;178533286 | chr2:179398015;179398014;179398013 |
| 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 | rs911726592  |
None | 1.0 | D | 0.843 | 0.849 | 0.822660018336 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9417 | likely_pathogenic | 0.9276 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.609121026 | None | None | I |
| G/C | 0.9898 | likely_pathogenic | 0.9873 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/D | 0.9934 | likely_pathogenic | 0.9909 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/E | 0.9951 | likely_pathogenic | 0.9934 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.614026844 | None | None | I |
| G/F | 0.9973 | likely_pathogenic | 0.9964 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/H | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/I | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/K | 0.998 | likely_pathogenic | 0.9974 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/L | 0.9963 | likely_pathogenic | 0.9957 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/M | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/N | 0.994 | likely_pathogenic | 0.9916 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/Q | 0.9955 | likely_pathogenic | 0.9943 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/R | 0.9935 | likely_pathogenic | 0.9913 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.60932283 | None | None | I |
| G/S | 0.9292 | likely_pathogenic | 0.9049 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/T | 0.9907 | likely_pathogenic | 0.9879 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/V | 0.9936 | likely_pathogenic | 0.9923 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.647508556 | None | None | I |
| G/W | 0.9972 | likely_pathogenic | 0.9964 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.631458835 | None | None | I |
| G/Y | 0.997 | likely_pathogenic | 0.9959 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.849 | 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.