Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27044 | 81355;81356;81357 | chr2:178565002;178565001;178565000 | chr2:179429729;179429728;179429727 |
| N2AB | 25403 | 76432;76433;76434 | chr2:178565002;178565001;178565000 | chr2:179429729;179429728;179429727 |
| N2A | 24476 | 73651;73652;73653 | chr2:178565002;178565001;178565000 | chr2:179429729;179429728;179429727 |
| N2B | 17979 | 54160;54161;54162 | chr2:178565002;178565001;178565000 | chr2:179429729;179429728;179429727 |
| Novex-1 | 18104 | 54535;54536;54537 | chr2:178565002;178565001;178565000 | chr2:179429729;179429728;179429727 |
| Novex-2 | 18171 | 54736;54737;54738 | chr2:178565002;178565001;178565000 | chr2:179429729;179429728;179429727 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.99 | N | 0.611 | 0.292 | 0.285698343383 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Q/L | None | None | 0.698 | N | 0.647 | 0.39 | 0.559847471112 | gnomAD-4.0.0 | 1.59341E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8609E-06 | 0 | 0 |
| Q/R | None | None | 0.904 | N | 0.623 | 0.349 | 0.202086224978 | gnomAD-4.0.0 | 6.37365E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8609E-06 | 4.31258E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5044 | ambiguous | 0.4658 | ambiguous | -1.473 | Destabilizing | 0.559 | D | 0.625 | neutral | None | None | None | None | N |
| Q/C | 0.8046 | likely_pathogenic | 0.7394 | pathogenic | -0.701 | Destabilizing | 0.998 | D | 0.768 | deleterious | None | None | None | None | N |
| Q/D | 0.942 | likely_pathogenic | 0.9291 | pathogenic | -2.067 | Highly Destabilizing | 0.974 | D | 0.61 | neutral | None | None | None | None | N |
| Q/E | 0.2446 | likely_benign | 0.2314 | benign | -1.734 | Destabilizing | 0.795 | D | 0.649 | neutral | N | 0.493908431 | None | None | N |
| Q/F | 0.9054 | likely_pathogenic | 0.8626 | pathogenic | -0.86 | Destabilizing | 0.956 | D | 0.777 | deleterious | None | None | None | None | N |
| Q/G | 0.7523 | likely_pathogenic | 0.732 | pathogenic | -1.928 | Destabilizing | 0.926 | D | 0.644 | neutral | None | None | None | None | N |
| Q/H | 0.6256 | likely_pathogenic | 0.5409 | ambiguous | -1.32 | Destabilizing | 0.99 | D | 0.611 | neutral | N | 0.466533393 | None | None | N |
| Q/I | 0.4825 | ambiguous | 0.419 | ambiguous | -0.197 | Destabilizing | 0.754 | D | 0.68 | prob.neutral | None | None | None | None | N |
| Q/K | 0.3982 | ambiguous | 0.3858 | ambiguous | -0.415 | Destabilizing | 0.904 | D | 0.666 | neutral | N | 0.504088139 | None | None | N |
| Q/L | 0.3231 | likely_benign | 0.283 | benign | -0.197 | Destabilizing | 0.698 | D | 0.647 | neutral | N | 0.520828461 | None | None | N |
| Q/M | 0.5196 | ambiguous | 0.4653 | ambiguous | -0.087 | Destabilizing | 0.978 | D | 0.613 | neutral | None | None | None | None | N |
| Q/N | 0.7446 | likely_pathogenic | 0.697 | pathogenic | -1.279 | Destabilizing | 0.993 | D | 0.598 | neutral | None | None | None | None | N |
| Q/P | 0.9832 | likely_pathogenic | 0.9778 | pathogenic | -0.601 | Destabilizing | 0.99 | D | 0.647 | neutral | N | 0.517492023 | None | None | N |
| Q/R | 0.3593 | ambiguous | 0.3398 | benign | -0.659 | Destabilizing | 0.904 | D | 0.623 | neutral | N | 0.504434856 | None | None | N |
| Q/S | 0.5169 | ambiguous | 0.4873 | ambiguous | -1.655 | Destabilizing | 0.926 | D | 0.614 | neutral | None | None | None | None | N |
| Q/T | 0.4035 | ambiguous | 0.3832 | ambiguous | -1.138 | Destabilizing | 0.86 | D | 0.591 | neutral | None | None | None | None | N |
| Q/V | 0.3811 | ambiguous | 0.333 | benign | -0.601 | Destabilizing | 0.019 | N | 0.549 | neutral | None | None | None | None | N |
| Q/W | 0.9291 | likely_pathogenic | 0.9063 | pathogenic | -0.908 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.8314 | likely_pathogenic | 0.7665 | pathogenic | -0.533 | Destabilizing | 0.978 | D | 0.665 | 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.