Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30025 | 90298;90299;90300 | chr2:178552827;178552826;178552825 | chr2:179417554;179417553;179417552 |
| N2AB | 28384 | 85375;85376;85377 | chr2:178552827;178552826;178552825 | chr2:179417554;179417553;179417552 |
| N2A | 27457 | 82594;82595;82596 | chr2:178552827;178552826;178552825 | chr2:179417554;179417553;179417552 |
| N2B | 20960 | 63103;63104;63105 | chr2:178552827;178552826;178552825 | chr2:179417554;179417553;179417552 |
| Novex-1 | 21085 | 63478;63479;63480 | chr2:178552827;178552826;178552825 | chr2:179417554;179417553;179417552 |
| Novex-2 | 21152 | 63679;63680;63681 | chr2:178552827;178552826;178552825 | chr2:179417554;179417553;179417552 |
| 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/G | rs1303810426  |
-2.725 | 0.999 | N | 0.829 | 0.511 | 0.791160110192 | 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/G | rs1303810426 |
-2.725 | 0.999 | N | 0.829 | 0.511 | 0.791160110192 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| V/L | None | None | 0.994 | N | 0.65 | 0.227 | 0.569563978121 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 | 0.4657 | ambiguous | 0.4136 | ambiguous | -1.854 | Destabilizing | 0.997 | D | 0.673 | prob.neutral | N | 0.488633211 | None | None | N |
| V/C | 0.8254 | likely_pathogenic | 0.8004 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| V/D | 0.9108 | likely_pathogenic | 0.8921 | pathogenic | -2.258 | Highly Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| V/E | 0.7051 | likely_pathogenic | 0.6801 | pathogenic | -2.071 | Highly Destabilizing | 0.999 | D | 0.852 | deleterious | N | 0.515220163 | None | None | N |
| V/F | 0.3162 | likely_benign | 0.2828 | benign | -1.18 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| V/G | 0.6478 | likely_pathogenic | 0.5816 | pathogenic | -2.317 | Highly Destabilizing | 0.999 | D | 0.829 | deleterious | N | 0.515980631 | None | None | N |
| V/H | 0.8814 | likely_pathogenic | 0.8608 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/I | 0.0733 | likely_benign | 0.0736 | benign | -0.581 | Destabilizing | 0.995 | D | 0.641 | neutral | None | None | None | None | N |
| V/K | 0.7687 | likely_pathogenic | 0.7436 | pathogenic | -1.528 | Destabilizing | 0.999 | D | 0.854 | deleterious | None | None | None | None | N |
| V/L | 0.2559 | likely_benign | 0.235 | benign | -0.581 | Destabilizing | 0.994 | D | 0.65 | prob.neutral | N | 0.469514998 | None | None | N |
| V/M | 0.1994 | likely_benign | 0.1765 | benign | -0.478 | Destabilizing | 0.999 | D | 0.722 | deleterious | N | 0.515473652 | None | None | N |
| V/N | 0.7935 | likely_pathogenic | 0.758 | pathogenic | -1.758 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| V/P | 0.9769 | likely_pathogenic | 0.9743 | pathogenic | -0.979 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| V/Q | 0.6569 | likely_pathogenic | 0.6157 | pathogenic | -1.68 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/R | 0.7349 | likely_pathogenic | 0.7061 | pathogenic | -1.28 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| V/S | 0.6324 | likely_pathogenic | 0.5689 | pathogenic | -2.318 | Highly Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| V/T | 0.3997 | ambiguous | 0.3645 | ambiguous | -1.994 | Destabilizing | 0.998 | D | 0.656 | prob.neutral | None | None | None | None | N |
| V/W | 0.9298 | likely_pathogenic | 0.9126 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/Y | 0.7938 | likely_pathogenic | 0.7584 | pathogenic | -1.181 | Destabilizing | 0.999 | D | 0.835 | 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.