Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28769 | 86530;86531;86532 | chr2:178559827;178559826;178559825 | chr2:179424554;179424553;179424552 |
| N2AB | 27128 | 81607;81608;81609 | chr2:178559827;178559826;178559825 | chr2:179424554;179424553;179424552 |
| N2A | 26201 | 78826;78827;78828 | chr2:178559827;178559826;178559825 | chr2:179424554;179424553;179424552 |
| N2B | 19704 | 59335;59336;59337 | chr2:178559827;178559826;178559825 | chr2:179424554;179424553;179424552 |
| Novex-1 | 19829 | 59710;59711;59712 | chr2:178559827;178559826;178559825 | chr2:179424554;179424553;179424552 |
| Novex-2 | 19896 | 59911;59912;59913 | chr2:178559827;178559826;178559825 | chr2:179424554;179424553;179424552 |
| 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/A | rs756222422  |
-0.281 | 1.0 | D | 0.765 | 0.557 | 0.617365057919 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | I | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs756222422 |
-0.281 | 1.0 | D | 0.765 | 0.557 | 0.617365057919 | gnomAD-4.0.0 | 1.59946E-06 | None | None | None | None | I | None | 0 | 2.28864E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs756222422 |
-0.735 | 1.0 | D | 0.852 | 0.567 | 0.651316673006 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/D | rs756222422 |
-0.735 | 1.0 | D | 0.852 | 0.567 | 0.651316673006 | gnomAD-4.0.0 | 1.59946E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85999E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4426 | ambiguous | 0.4178 | ambiguous | -0.204 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.620111333 | None | None | I |
| G/C | 0.5787 | likely_pathogenic | 0.5673 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.620716745 | None | None | I |
| G/D | 0.5012 | ambiguous | 0.5445 | ambiguous | -0.556 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.58111839 | None | None | I |
| G/E | 0.6095 | likely_pathogenic | 0.6472 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/F | 0.9238 | likely_pathogenic | 0.9203 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/H | 0.7205 | likely_pathogenic | 0.7306 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.9423 | likely_pathogenic | 0.9322 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/K | 0.7231 | likely_pathogenic | 0.7513 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/L | 0.8759 | likely_pathogenic | 0.8626 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.881 | likely_pathogenic | 0.8681 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/N | 0.4735 | ambiguous | 0.4914 | ambiguous | -0.284 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/P | 0.9879 | likely_pathogenic | 0.9889 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/Q | 0.628 | likely_pathogenic | 0.6433 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/R | 0.5924 | likely_pathogenic | 0.6082 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.636332498 | None | None | I |
| G/S | 0.2282 | likely_benign | 0.2178 | benign | -0.4 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.610622942 | None | None | I |
| G/T | 0.6214 | likely_pathogenic | 0.6018 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/V | 0.8699 | likely_pathogenic | 0.8498 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.636534302 | None | None | I |
| G/W | 0.8694 | likely_pathogenic | 0.8762 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Y | 0.8473 | likely_pathogenic | 0.8491 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
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.