Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29455 | 88588;88589;88590 | chr2:178555096;178555095;178555094 | chr2:179419823;179419822;179419821 |
| N2AB | 27814 | 83665;83666;83667 | chr2:178555096;178555095;178555094 | chr2:179419823;179419822;179419821 |
| N2A | 26887 | 80884;80885;80886 | chr2:178555096;178555095;178555094 | chr2:179419823;179419822;179419821 |
| N2B | 20390 | 61393;61394;61395 | chr2:178555096;178555095;178555094 | chr2:179419823;179419822;179419821 |
| Novex-1 | 20515 | 61768;61769;61770 | chr2:178555096;178555095;178555094 | chr2:179419823;179419822;179419821 |
| Novex-2 | 20582 | 61969;61970;61971 | chr2:178555096;178555095;178555094 | chr2:179419823;179419822;179419821 |
| 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/D | rs769764408  |
-0.841 | 0.998 | D | 0.812 | 0.678 | 0.697169835009 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | rs769764408 |
-0.841 | 0.998 | D | 0.812 | 0.678 | 0.697169835009 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85801E-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 | 0.5842 | likely_pathogenic | 0.5206 | ambiguous | -0.207 | Destabilizing | 0.996 | D | 0.691 | prob.neutral | D | 0.585286635 | None | None | N |
| G/C | 0.6921 | likely_pathogenic | 0.6448 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.611430159 | None | None | N |
| G/D | 0.618 | likely_pathogenic | 0.5336 | ambiguous | -0.628 | Destabilizing | 0.998 | D | 0.812 | deleterious | D | 0.56765284 | None | None | N |
| G/E | 0.7144 | likely_pathogenic | 0.6115 | pathogenic | -0.806 | Destabilizing | 0.813 | D | 0.474 | neutral | None | None | None | None | N |
| G/F | 0.9556 | likely_pathogenic | 0.9336 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/H | 0.7892 | likely_pathogenic | 0.7155 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/I | 0.9621 | likely_pathogenic | 0.9506 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/K | 0.7489 | likely_pathogenic | 0.6596 | pathogenic | -0.564 | Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | N |
| G/L | 0.9172 | likely_pathogenic | 0.8874 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/M | 0.937 | likely_pathogenic | 0.9082 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/N | 0.6166 | likely_pathogenic | 0.5387 | ambiguous | -0.258 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/P | 0.9935 | likely_pathogenic | 0.9914 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/Q | 0.6899 | likely_pathogenic | 0.598 | pathogenic | -0.588 | Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
| G/R | 0.6324 | likely_pathogenic | 0.546 | ambiguous | -0.121 | Destabilizing | 0.999 | D | 0.836 | deleterious | D | 0.585488439 | None | None | N |
| G/S | 0.3581 | ambiguous | 0.3196 | benign | -0.355 | Destabilizing | 0.999 | D | 0.778 | deleterious | D | 0.610622942 | None | None | N |
| G/T | 0.7773 | likely_pathogenic | 0.7148 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/V | 0.9134 | likely_pathogenic | 0.8892 | pathogenic | -0.348 | Destabilizing | 0.999 | D | 0.814 | deleterious | D | 0.611228355 | None | None | N |
| G/W | 0.9082 | likely_pathogenic | 0.8544 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/Y | 0.9136 | likely_pathogenic | 0.8751 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
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.