Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8016 | 24271;24272;24273 | chr2:178719344;178719343;178719342 | chr2:179584071;179584070;179584069 |
| N2AB | 7699 | 23320;23321;23322 | chr2:178719344;178719343;178719342 | chr2:179584071;179584070;179584069 |
| N2A | 6772 | 20539;20540;20541 | chr2:178719344;178719343;178719342 | chr2:179584071;179584070;179584069 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs746704436  |
-1.502 | 0.939 | D | 0.635 | 0.642 | 0.742433623923 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | I | None | 0 | 0 | None | 9.67E-05 | 5.12E-05 | None | 3.27E-05 | None | 0 | 3.13E-05 | 0 |
| V/A | rs746704436 |
-1.502 | 0.939 | D | 0.635 | 0.642 | 0.742433623923 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs746704436 |
-1.502 | 0.939 | D | 0.635 | 0.642 | 0.742433623923 | gnomAD-4.0.0 | 6.19722E-06 | None | None | None | None | I | None | 1.33515E-05 | 0 | None | 0 | 2.22936E-05 | None | 0 | 0 | 5.08583E-06 | 1.09794E-05 | 1.60108E-05 |
| V/L | None | None | 0.76 | D | 0.556 | 0.456 | 0.53819168318 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1929 | likely_benign | 0.207 | benign | -1.405 | Destabilizing | 0.939 | D | 0.635 | neutral | D | 0.547850995 | None | None | I |
| V/C | 0.8553 | likely_pathogenic | 0.8464 | pathogenic | -0.914 | Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | I |
| V/D | 0.898 | likely_pathogenic | 0.9023 | pathogenic | -1.038 | Destabilizing | 0.997 | D | 0.855 | deleterious | D | 0.633600114 | None | None | I |
| V/E | 0.7933 | likely_pathogenic | 0.8057 | pathogenic | -0.979 | Destabilizing | 0.998 | D | 0.84 | deleterious | None | None | None | None | I |
| V/F | 0.3043 | likely_benign | 0.294 | benign | -0.921 | Destabilizing | 0.982 | D | 0.757 | deleterious | D | 0.562972057 | None | None | I |
| V/G | 0.5223 | ambiguous | 0.5272 | ambiguous | -1.785 | Destabilizing | 0.997 | D | 0.857 | deleterious | D | 0.633600114 | None | None | I |
| V/H | 0.9035 | likely_pathogenic | 0.9064 | pathogenic | -1.32 | Destabilizing | 0.999 | D | 0.868 | deleterious | None | None | None | None | I |
| V/I | 0.0853 | likely_benign | 0.087 | benign | -0.443 | Destabilizing | 0.046 | N | 0.224 | neutral | N | 0.466957556 | None | None | I |
| V/K | 0.8193 | likely_pathogenic | 0.8254 | pathogenic | -1.12 | Destabilizing | 0.993 | D | 0.841 | deleterious | None | None | None | None | I |
| V/L | 0.2983 | likely_benign | 0.3077 | benign | -0.443 | Destabilizing | 0.76 | D | 0.556 | neutral | D | 0.54321842 | None | None | I |
| V/M | 0.1987 | likely_benign | 0.209 | benign | -0.389 | Destabilizing | 0.986 | D | 0.708 | prob.delet. | None | None | None | None | I |
| V/N | 0.7886 | likely_pathogenic | 0.7961 | pathogenic | -0.991 | Destabilizing | 0.998 | D | 0.872 | deleterious | None | None | None | None | I |
| V/P | 0.8335 | likely_pathogenic | 0.8452 | pathogenic | -0.729 | Destabilizing | 0.998 | D | 0.841 | deleterious | None | None | None | None | I |
| V/Q | 0.7814 | likely_pathogenic | 0.7899 | pathogenic | -1.044 | Destabilizing | 0.998 | D | 0.861 | deleterious | None | None | None | None | I |
| V/R | 0.7395 | likely_pathogenic | 0.75 | pathogenic | -0.75 | Destabilizing | 0.998 | D | 0.873 | deleterious | None | None | None | None | I |
| V/S | 0.4611 | ambiguous | 0.4707 | ambiguous | -1.588 | Destabilizing | 0.993 | D | 0.843 | deleterious | None | None | None | None | I |
| V/T | 0.2143 | likely_benign | 0.2282 | benign | -1.4 | Destabilizing | 0.953 | D | 0.716 | prob.delet. | None | None | None | None | I |
| V/W | 0.9309 | likely_pathogenic | 0.9287 | pathogenic | -1.178 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | I |
| V/Y | 0.8298 | likely_pathogenic | 0.8244 | pathogenic | -0.842 | Destabilizing | 0.998 | D | 0.751 | 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.