Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34150 | 102673;102674;102675 | chr2:178534167;178534166;178534165 | chr2:179398894;179398893;179398892 |
| N2AB | 32509 | 97750;97751;97752 | chr2:178534167;178534166;178534165 | chr2:179398894;179398893;179398892 |
| N2A | 31582 | 94969;94970;94971 | chr2:178534167;178534166;178534165 | chr2:179398894;179398893;179398892 |
| N2B | 25085 | 75478;75479;75480 | chr2:178534167;178534166;178534165 | chr2:179398894;179398893;179398892 |
| Novex-1 | 25210 | 75853;75854;75855 | chr2:178534167;178534166;178534165 | chr2:179398894;179398893;179398892 |
| Novex-2 | 25277 | 76054;76055;76056 | chr2:178534167;178534166;178534165 | chr2:179398894;179398893;179398892 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs768162354  |
-0.874 | 0.924 | D | 0.797 | 0.779 | 0.675528658969 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs768162354 |
-0.874 | 0.924 | D | 0.797 | 0.779 | 0.675528658969 | gnomAD-4.0.0 | 2.05247E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03804E-05 | None | 0 | 0 | 8.99418E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2595 | likely_benign | 0.3286 | benign | -0.377 | Destabilizing | 0.873 | D | 0.694 | prob.neutral | D | 0.600377337 | None | None | N |
| G/C | 0.3955 | ambiguous | 0.5617 | ambiguous | -0.729 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| G/D | 0.2412 | likely_benign | 0.2873 | benign | -0.921 | Destabilizing | 0.97 | D | 0.817 | deleterious | None | None | None | None | N |
| G/E | 0.3234 | likely_benign | 0.385 | ambiguous | -1.098 | Destabilizing | 0.924 | D | 0.797 | deleterious | D | 0.566693821 | None | None | N |
| G/F | 0.77 | likely_pathogenic | 0.8379 | pathogenic | -1.148 | Destabilizing | 0.996 | D | 0.831 | deleterious | None | None | None | None | N |
| G/H | 0.5272 | ambiguous | 0.546 | ambiguous | -0.66 | Destabilizing | 0.996 | D | 0.825 | deleterious | None | None | None | None | N |
| G/I | 0.6168 | likely_pathogenic | 0.7688 | pathogenic | -0.515 | Destabilizing | 0.996 | D | 0.831 | deleterious | None | None | None | None | N |
| G/K | 0.4523 | ambiguous | 0.5059 | ambiguous | -0.944 | Destabilizing | 0.941 | D | 0.798 | deleterious | None | None | None | None | N |
| G/L | 0.673 | likely_pathogenic | 0.766 | pathogenic | -0.515 | Destabilizing | 0.97 | D | 0.797 | deleterious | None | None | None | None | N |
| G/M | 0.6674 | likely_pathogenic | 0.7802 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| G/N | 0.3087 | likely_benign | 0.3594 | ambiguous | -0.479 | Destabilizing | 0.97 | D | 0.813 | deleterious | None | None | None | None | N |
| G/P | 0.9545 | likely_pathogenic | 0.9752 | pathogenic | -0.436 | Destabilizing | 0.985 | D | 0.812 | deleterious | None | None | None | None | N |
| G/Q | 0.4533 | ambiguous | 0.4861 | ambiguous | -0.833 | Destabilizing | 0.97 | D | 0.811 | deleterious | None | None | None | None | N |
| G/R | 0.3537 | ambiguous | 0.4093 | ambiguous | -0.404 | Destabilizing | 0.103 | N | 0.657 | neutral | D | 0.600579142 | None | None | N |
| G/S | 0.1822 | likely_benign | 0.2249 | benign | -0.571 | Destabilizing | 0.97 | D | 0.805 | deleterious | None | None | None | None | N |
| G/T | 0.3506 | ambiguous | 0.4264 | ambiguous | -0.695 | Destabilizing | 0.97 | D | 0.798 | deleterious | None | None | None | None | N |
| G/V | 0.4838 | ambiguous | 0.6358 | pathogenic | -0.436 | Destabilizing | 0.96 | D | 0.801 | deleterious | D | 0.600780946 | None | None | N |
| G/W | 0.6072 | likely_pathogenic | 0.7027 | pathogenic | -1.294 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.5523 | ambiguous | 0.6536 | pathogenic | -0.964 | Destabilizing | 0.996 | D | 0.832 | 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.