Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31792 | 95599;95600;95601 | chr2:178545862;178545861;178545860 | chr2:179410589;179410588;179410587 |
| N2AB | 30151 | 90676;90677;90678 | chr2:178545862;178545861;178545860 | chr2:179410589;179410588;179410587 |
| N2A | 29224 | 87895;87896;87897 | chr2:178545862;178545861;178545860 | chr2:179410589;179410588;179410587 |
| N2B | 22727 | 68404;68405;68406 | chr2:178545862;178545861;178545860 | chr2:179410589;179410588;179410587 |
| Novex-1 | 22852 | 68779;68780;68781 | chr2:178545862;178545861;178545860 | chr2:179410589;179410588;179410587 |
| Novex-2 | 22919 | 68980;68981;68982 | chr2:178545862;178545861;178545860 | chr2:179410589;179410588;179410587 |
| 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 | 0.998 | N | 0.545 | 0.246 | 0.516659694907 | gnomAD-4.0.0 | 6.84225E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99496E-07 | 0 | 0 |
| V/G | rs767359045  |
-1.386 | 1.0 | N | 0.799 | 0.505 | 0.735492212333 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/G | rs767359045 |
-1.386 | 1.0 | N | 0.799 | 0.505 | 0.735492212333 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79899E-06 | 0 | 0 |
| V/M | rs994348588 |
-0.49 | 0.999 | N | 0.737 | 0.176 | 0.476598743245 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/M | rs994348588 |
-0.49 | 0.999 | N | 0.737 | 0.176 | 0.476598743245 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs994348588 |
-0.49 | 0.999 | N | 0.737 | 0.176 | 0.476598743245 | gnomAD-4.0.0 | 5.57713E-06 | None | None | None | None | N | None | 5.33917E-05 | 1.66672E-05 | None | 0 | 0 | None | 0 | 0 | 3.39044E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1381 | likely_benign | 0.1399 | benign | -1.242 | Destabilizing | 0.998 | D | 0.545 | neutral | N | 0.456523479 | None | None | N |
| V/C | 0.5926 | likely_pathogenic | 0.5635 | ambiguous | -0.758 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| V/D | 0.2207 | likely_benign | 0.2202 | benign | -1.098 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| V/E | 0.1775 | likely_benign | 0.1743 | benign | -1.182 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.330770181 | None | None | N |
| V/F | 0.1423 | likely_benign | 0.1395 | benign | -1.188 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| V/G | 0.1794 | likely_benign | 0.1854 | benign | -1.459 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.519516165 | None | None | N |
| V/H | 0.4264 | ambiguous | 0.4089 | ambiguous | -0.936 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/I | 0.0704 | likely_benign | 0.0679 | benign | -0.78 | Destabilizing | 0.985 | D | 0.491 | neutral | None | None | None | None | N |
| V/K | 0.2352 | likely_benign | 0.2382 | benign | -1.02 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| V/L | 0.1196 | likely_benign | 0.1215 | benign | -0.78 | Destabilizing | 0.434 | N | 0.277 | neutral | N | 0.480861776 | None | None | N |
| V/M | 0.1133 | likely_benign | 0.1096 | benign | -0.524 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | N | 0.4668192 | None | None | N |
| V/N | 0.1672 | likely_benign | 0.1569 | benign | -0.659 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/P | 0.2631 | likely_benign | 0.2531 | benign | -0.899 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/Q | 0.2237 | likely_benign | 0.2202 | benign | -0.961 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/R | 0.2455 | likely_benign | 0.253 | benign | -0.364 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| V/S | 0.1544 | likely_benign | 0.1529 | benign | -1.071 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/T | 0.1584 | likely_benign | 0.1528 | benign | -1.063 | Destabilizing | 0.998 | D | 0.659 | neutral | None | None | None | None | N |
| V/W | 0.7112 | likely_pathogenic | 0.7173 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/Y | 0.3881 | ambiguous | 0.3831 | ambiguous | -1.007 | Destabilizing | 1.0 | D | 0.787 | 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.