Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32838 | 98737;98738;98739 | chr2:178539553;178539552;178539551 | chr2:179404280;179404279;179404278 |
| N2AB | 31197 | 93814;93815;93816 | chr2:178539553;178539552;178539551 | chr2:179404280;179404279;179404278 |
| N2A | 30270 | 91033;91034;91035 | chr2:178539553;178539552;178539551 | chr2:179404280;179404279;179404278 |
| N2B | 23773 | 71542;71543;71544 | chr2:178539553;178539552;178539551 | chr2:179404280;179404279;179404278 |
| Novex-1 | 23898 | 71917;71918;71919 | chr2:178539553;178539552;178539551 | chr2:179404280;179404279;179404278 |
| Novex-2 | 23965 | 72118;72119;72120 | chr2:178539553;178539552;178539551 | chr2:179404280;179404279;179404278 |
| 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/E | None | None | 1.0 | N | 0.683 | 0.512 | 0.583209036909 | gnomAD-4.0.0 | 6.84182E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs200318160  |
-0.888 | 0.997 | N | 0.563 | 0.31 | 0.405839309607 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs200318160 |
-0.888 | 0.997 | N | 0.563 | 0.31 | 0.405839309607 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs200318160 |
-0.888 | 0.997 | N | 0.563 | 0.31 | 0.405839309607 | gnomAD-4.0.0 | 2.05255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47794E-05 | 0 |
| V/M | None | -0.641 | 1.0 | N | 0.721 | 0.245 | 0.457286136841 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| V/M | None | -0.641 | 1.0 | N | 0.721 | 0.245 | 0.457286136841 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | None | -0.641 | 1.0 | N | 0.721 | 0.245 | 0.457286136841 | gnomAD-4.0.0 | 8.67578E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18665E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2686 | likely_benign | 0.2381 | benign | -1.669 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.421549688 | None | None | N |
| V/C | 0.8392 | likely_pathogenic | 0.8092 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| V/D | 0.5659 | likely_pathogenic | 0.4901 | ambiguous | -1.816 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/E | 0.4712 | ambiguous | 0.4283 | ambiguous | -1.826 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.492583067 | None | None | N |
| V/F | 0.2546 | likely_benign | 0.2228 | benign | -1.335 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/G | 0.2931 | likely_benign | 0.2391 | benign | -1.971 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | N | 0.471690506 | None | None | N |
| V/H | 0.7712 | likely_pathogenic | 0.7269 | pathogenic | -1.595 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/I | 0.0961 | likely_benign | 0.0917 | benign | -0.926 | Destabilizing | 0.998 | D | 0.505 | neutral | None | None | None | None | N |
| V/K | 0.5379 | ambiguous | 0.5223 | ambiguous | -1.531 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/L | 0.3127 | likely_benign | 0.2648 | benign | -0.926 | Destabilizing | 0.997 | D | 0.563 | neutral | N | 0.442098318 | None | None | N |
| V/M | 0.2579 | likely_benign | 0.2223 | benign | -0.555 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.471092523 | None | None | N |
| V/N | 0.4186 | ambiguous | 0.3607 | ambiguous | -1.194 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/P | 0.6108 | likely_pathogenic | 0.5656 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| V/Q | 0.5167 | ambiguous | 0.4829 | ambiguous | -1.398 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/R | 0.5314 | ambiguous | 0.5118 | ambiguous | -0.918 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/S | 0.3322 | likely_benign | 0.2876 | benign | -1.597 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/T | 0.3268 | likely_benign | 0.2924 | benign | -1.518 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| V/W | 0.9077 | likely_pathogenic | 0.8858 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6517 | likely_pathogenic | 0.6059 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | 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.