Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32609 | 98050;98051;98052 | chr2:178540341;178540340;178540339 | chr2:179405068;179405067;179405066 |
| N2AB | 30968 | 93127;93128;93129 | chr2:178540341;178540340;178540339 | chr2:179405068;179405067;179405066 |
| N2A | 30041 | 90346;90347;90348 | chr2:178540341;178540340;178540339 | chr2:179405068;179405067;179405066 |
| N2B | 23544 | 70855;70856;70857 | chr2:178540341;178540340;178540339 | chr2:179405068;179405067;179405066 |
| Novex-1 | 23669 | 71230;71231;71232 | chr2:178540341;178540340;178540339 | chr2:179405068;179405067;179405066 |
| Novex-2 | 23736 | 71431;71432;71433 | chr2:178540341;178540340;178540339 | chr2:179405068;179405067;179405066 |
| 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/D | None | None | 1.0 | D | 0.865 | 0.606 | 0.892196067269 | gnomAD-4.0.0 | 6.84508E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15999E-05 | 0 |
| V/I | rs2154140602  |
None | 0.997 | N | 0.592 | 0.26 | 0.476445137733 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs2154140602 |
None | 0.997 | N | 0.592 | 0.26 | 0.476445137733 | gnomAD-4.0.0 | 2.56378E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79115E-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 | 0.7034 | likely_pathogenic | 0.6884 | pathogenic | -1.583 | Destabilizing | 0.999 | D | 0.641 | neutral | N | 0.468926476 | None | None | N |
| V/C | 0.9172 | likely_pathogenic | 0.9101 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/D | 0.9822 | likely_pathogenic | 0.9765 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.532881388 | None | None | N |
| V/E | 0.9451 | likely_pathogenic | 0.9311 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/F | 0.7206 | likely_pathogenic | 0.6762 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.491856577 | None | None | N |
| V/G | 0.8709 | likely_pathogenic | 0.8567 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.525119481 | None | None | N |
| V/H | 0.9868 | likely_pathogenic | 0.9814 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.0882 | likely_benign | 0.0855 | benign | -0.685 | Destabilizing | 0.997 | D | 0.592 | neutral | N | 0.472904015 | None | None | N |
| V/K | 0.9585 | likely_pathogenic | 0.9452 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/L | 0.633 | likely_pathogenic | 0.5816 | pathogenic | -0.685 | Destabilizing | 0.997 | D | 0.621 | neutral | N | 0.475500296 | None | None | N |
| V/M | 0.5962 | likely_pathogenic | 0.5495 | ambiguous | -0.561 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/N | 0.9595 | likely_pathogenic | 0.947 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/P | 0.8247 | likely_pathogenic | 0.7936 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| V/Q | 0.9544 | likely_pathogenic | 0.9392 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/R | 0.9513 | likely_pathogenic | 0.9347 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/S | 0.9162 | likely_pathogenic | 0.8991 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/T | 0.8421 | likely_pathogenic | 0.8158 | pathogenic | -1.539 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/W | 0.9871 | likely_pathogenic | 0.9833 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/Y | 0.9494 | likely_pathogenic | 0.938 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.86 | 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.