Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25698 | 77317;77318;77319 | chr2:178569040;178569039;178569038 | chr2:179433767;179433766;179433765 |
| N2AB | 24057 | 72394;72395;72396 | chr2:178569040;178569039;178569038 | chr2:179433767;179433766;179433765 |
| N2A | 23130 | 69613;69614;69615 | chr2:178569040;178569039;178569038 | chr2:179433767;179433766;179433765 |
| N2B | 16633 | 50122;50123;50124 | chr2:178569040;178569039;178569038 | chr2:179433767;179433766;179433765 |
| Novex-1 | 16758 | 50497;50498;50499 | chr2:178569040;178569039;178569038 | chr2:179433767;179433766;179433765 |
| Novex-2 | 16825 | 50698;50699;50700 | chr2:178569040;178569039;178569038 | chr2:179433767;179433766;179433765 |
| 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 | None | None | 0.944 | N | 0.424 | 0.158 | 0.514127983839 | gnomAD-4.0.0 | 6.84407E-07 | None | None | None | None | I | None | 2.99025E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs759278736  |
-1.144 | 0.997 | N | 0.617 | 0.424 | 0.849418066332 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 1.24039E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs759278736 |
-1.144 | 0.997 | N | 0.617 | 0.424 | 0.849418066332 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 7.24E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs759278736 |
-1.144 | 0.997 | N | 0.617 | 0.424 | 0.849418066332 | gnomAD-4.0.0 | 3.71939E-06 | None | None | None | None | I | None | 6.67896E-05 | 1.66795E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1391801848 |
-0.357 | 0.999 | N | 0.515 | 0.281 | 0.516659694907 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/M | rs1391801848 |
-0.357 | 0.999 | N | 0.515 | 0.281 | 0.516659694907 | gnomAD-4.0.0 | 1.59245E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4339E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1787 | likely_benign | 0.1775 | benign | -0.62 | Destabilizing | 0.944 | D | 0.424 | neutral | N | 0.515859784 | None | None | I |
| V/C | 0.783 | likely_pathogenic | 0.7963 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.55 | neutral | None | None | None | None | I |
| V/D | 0.6405 | likely_pathogenic | 0.6207 | pathogenic | -0.164 | Destabilizing | 0.997 | D | 0.798 | deleterious | None | None | None | None | I |
| V/E | 0.3797 | ambiguous | 0.3838 | ambiguous | -0.275 | Destabilizing | 0.976 | D | 0.553 | neutral | N | 0.465226265 | None | None | I |
| V/F | 0.3111 | likely_benign | 0.3029 | benign | -0.882 | Destabilizing | 0.999 | D | 0.503 | neutral | None | None | None | None | I |
| V/G | 0.3547 | ambiguous | 0.3382 | benign | -0.752 | Destabilizing | 0.997 | D | 0.617 | neutral | N | 0.500384818 | None | None | I |
| V/H | 0.7027 | likely_pathogenic | 0.6959 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| V/I | 0.0822 | likely_benign | 0.0825 | benign | -0.421 | Destabilizing | 0.997 | D | 0.434 | neutral | None | None | None | None | I |
| V/K | 0.2797 | likely_benign | 0.2864 | benign | -0.308 | Destabilizing | 0.422 | N | 0.41 | neutral | None | None | None | None | I |
| V/L | 0.2839 | likely_benign | 0.304 | benign | -0.421 | Destabilizing | 0.972 | D | 0.435 | neutral | N | 0.477721433 | None | None | I |
| V/M | 0.1729 | likely_benign | 0.1801 | benign | -0.311 | Destabilizing | 0.999 | D | 0.515 | neutral | N | 0.518996052 | None | None | I |
| V/N | 0.4165 | ambiguous | 0.4072 | ambiguous | -0.076 | Destabilizing | 0.997 | D | 0.817 | deleterious | None | None | None | None | I |
| V/P | 0.2733 | likely_benign | 0.2978 | benign | -0.453 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | I |
| V/Q | 0.3467 | ambiguous | 0.3503 | ambiguous | -0.359 | Destabilizing | 0.995 | D | 0.819 | deleterious | None | None | None | None | I |
| V/R | 0.2964 | likely_benign | 0.3001 | benign | 0.178 | Stabilizing | 0.99 | D | 0.689 | prob.delet. | None | None | None | None | I |
| V/S | 0.307 | likely_benign | 0.2931 | benign | -0.508 | Destabilizing | 0.995 | D | 0.529 | neutral | None | None | None | None | I |
| V/T | 0.2177 | likely_benign | 0.2145 | benign | -0.521 | Destabilizing | 0.991 | D | 0.544 | neutral | None | None | None | None | I |
| V/W | 0.9227 | likely_pathogenic | 0.918 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| V/Y | 0.6997 | likely_pathogenic | 0.6952 | pathogenic | -0.593 | Destabilizing | 0.999 | D | 0.494 | neutral | 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.