Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2476 | 7651;7652;7653 | chr2:178773630;178773629;178773628 | chr2:179638357;179638356;179638355 |
| N2AB | 2476 | 7651;7652;7653 | chr2:178773630;178773629;178773628 | chr2:179638357;179638356;179638355 |
| N2A | 2476 | 7651;7652;7653 | chr2:178773630;178773629;178773628 | chr2:179638357;179638356;179638355 |
| N2B | 2430 | 7513;7514;7515 | chr2:178773630;178773629;178773628 | chr2:179638357;179638356;179638355 |
| Novex-1 | 2430 | 7513;7514;7515 | chr2:178773630;178773629;178773628 | chr2:179638357;179638356;179638355 |
| Novex-2 | 2430 | 7513;7514;7515 | chr2:178773630;178773629;178773628 | chr2:179638357;179638356;179638355 |
| Novex-3 | 2476 | 7651;7652;7653 | chr2:178773630;178773629;178773628 | chr2:179638357;179638356;179638355 |
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/I | rs763541715  |
-0.301 | 0.625 | D | 0.625 | 0.265 | 0.661693444866 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.09099E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs763541715 |
-0.301 | 0.625 | D | 0.625 | 0.265 | 0.661693444866 | gnomAD-4.0.0 | 3.18143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55031E-05 | None | 0 | 0 | 0 | 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 | 0.159 | likely_benign | 0.1621 | benign | -1.373 | Destabilizing | 0.005 | N | 0.339 | neutral | D | 0.593951669 | None | None | N |
| V/C | 0.6375 | likely_pathogenic | 0.6332 | pathogenic | -1.042 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| V/D | 0.71 | likely_pathogenic | 0.7182 | pathogenic | -1.098 | Destabilizing | 0.934 | D | 0.805 | deleterious | D | 0.717959027 | None | None | N |
| V/E | 0.6374 | likely_pathogenic | 0.641 | pathogenic | -1.049 | Destabilizing | 0.842 | D | 0.814 | deleterious | None | None | None | None | N |
| V/F | 0.2812 | likely_benign | 0.2856 | benign | -0.894 | Destabilizing | 0.989 | D | 0.762 | deleterious | D | 0.635570948 | None | None | N |
| V/G | 0.2384 | likely_benign | 0.2447 | benign | -1.727 | Destabilizing | 0.669 | D | 0.759 | deleterious | D | 0.679749304 | None | None | N |
| V/H | 0.799 | likely_pathogenic | 0.7995 | pathogenic | -1.156 | Destabilizing | 0.998 | D | 0.839 | deleterious | None | None | None | None | N |
| V/I | 0.0863 | likely_benign | 0.083 | benign | -0.486 | Destabilizing | 0.625 | D | 0.625 | neutral | D | 0.524840914 | None | None | N |
| V/K | 0.734 | likely_pathogenic | 0.7333 | pathogenic | -1.22 | Destabilizing | 0.842 | D | 0.816 | deleterious | None | None | None | None | N |
| V/L | 0.2962 | likely_benign | 0.2852 | benign | -0.486 | Destabilizing | 0.625 | D | 0.633 | neutral | D | 0.614578908 | None | None | N |
| V/M | 0.1956 | likely_benign | 0.1899 | benign | -0.523 | Destabilizing | 0.991 | D | 0.66 | neutral | None | None | None | None | N |
| V/N | 0.4625 | ambiguous | 0.4602 | ambiguous | -1.123 | Destabilizing | 0.949 | D | 0.813 | deleterious | None | None | None | None | N |
| V/P | 0.6499 | likely_pathogenic | 0.6486 | pathogenic | -0.746 | Destabilizing | 0.974 | D | 0.813 | deleterious | None | None | None | None | N |
| V/Q | 0.605 | likely_pathogenic | 0.606 | pathogenic | -1.189 | Destabilizing | 0.974 | D | 0.839 | deleterious | None | None | None | None | N |
| V/R | 0.6834 | likely_pathogenic | 0.6896 | pathogenic | -0.786 | Destabilizing | 0.949 | D | 0.835 | deleterious | None | None | None | None | N |
| V/S | 0.2193 | likely_benign | 0.2222 | benign | -1.68 | Destabilizing | 0.067 | N | 0.526 | neutral | None | None | None | None | N |
| V/T | 0.2096 | likely_benign | 0.2077 | benign | -1.502 | Destabilizing | 0.728 | D | 0.64 | neutral | None | None | None | None | N |
| V/W | 0.9084 | likely_pathogenic | 0.9106 | pathogenic | -1.106 | Destabilizing | 0.998 | D | 0.836 | deleterious | None | None | None | None | N |
| V/Y | 0.7137 | likely_pathogenic | 0.7155 | pathogenic | -0.796 | Destabilizing | 0.991 | D | 0.752 | 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.