Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20845 | 62758;62759;62760 | chr2:178589192;178589191;178589190 | chr2:179453919;179453918;179453917 |
| N2AB | 19204 | 57835;57836;57837 | chr2:178589192;178589191;178589190 | chr2:179453919;179453918;179453917 |
| N2A | 18277 | 55054;55055;55056 | chr2:178589192;178589191;178589190 | chr2:179453919;179453918;179453917 |
| N2B | 11780 | 35563;35564;35565 | chr2:178589192;178589191;178589190 | chr2:179453919;179453918;179453917 |
| Novex-1 | 11905 | 35938;35939;35940 | chr2:178589192;178589191;178589190 | chr2:179453919;179453918;179453917 |
| Novex-2 | 11972 | 36139;36140;36141 | chr2:178589192;178589191;178589190 | chr2:179453919;179453918;179453917 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | None | None | 1.0 | N | 0.853 | 0.467 | 0.515490261806 | gnomAD-4.0.0 | 6.84314E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65678E-05 |
| T/M | rs727505316  |
-0.167 | 1.0 | D | 0.827 | 0.433 | 0.624018827985 | gnomAD-2.1.1 | 5.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.94214E-04 | None | 0 | 4.44E-05 | 0 |
| T/M | rs727505316 |
-0.167 | 1.0 | D | 0.827 | 0.433 | 0.624018827985 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 4.14422E-04 | 0 |
| T/M | rs727505316 |
-0.167 | 1.0 | D | 0.827 | 0.433 | 0.624018827985 | gnomAD-4.0.0 | 4.46271E-05 | None | None | None | None | N | None | 1.33522E-05 | 0 | None | 0 | 2.23354E-05 | None | 0 | 0 | 3.39087E-05 | 3.18422E-04 | 1.60138E-05 |
| T/R | rs727505316 |
-0.503 | 1.0 | N | 0.853 | 0.486 | 0.595214673487 | gnomAD-2.1.1 | 4.29E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.03E-05 | 1.40489E-04 |
| T/R | rs727505316 |
-0.503 | 1.0 | N | 0.853 | 0.486 | 0.595214673487 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 4.78927E-04 |
| T/R | rs727505316 |
-0.503 | 1.0 | N | 0.853 | 0.486 | 0.595214673487 | gnomAD-4.0.0 | 2.97514E-05 | None | None | None | None | N | None | 4.00566E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.56041E-05 | 0 | 4.80415E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1315 | likely_benign | 0.1445 | benign | -0.835 | Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.497747105 | None | None | N |
| T/C | 0.4394 | ambiguous | 0.522 | ambiguous | -0.618 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| T/D | 0.8257 | likely_pathogenic | 0.8683 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| T/E | 0.5206 | ambiguous | 0.5828 | pathogenic | 0.005 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| T/F | 0.4018 | ambiguous | 0.432 | ambiguous | -0.77 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| T/G | 0.492 | ambiguous | 0.5567 | ambiguous | -1.142 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/H | 0.3244 | likely_benign | 0.3521 | ambiguous | -1.364 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| T/I | 0.2421 | likely_benign | 0.2563 | benign | -0.096 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| T/K | 0.263 | likely_benign | 0.2727 | benign | -0.517 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.494903801 | None | None | N |
| T/L | 0.1541 | likely_benign | 0.1618 | benign | -0.096 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/M | 0.1005 | likely_benign | 0.1054 | benign | -0.05 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.52873116 | None | None | N |
| T/N | 0.2769 | likely_benign | 0.3206 | benign | -0.647 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/P | 0.9266 | likely_pathogenic | 0.9211 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.525766088 | None | None | N |
| T/Q | 0.2642 | likely_benign | 0.2936 | benign | -0.685 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| T/R | 0.2316 | likely_benign | 0.24 | benign | -0.46 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.497368103 | None | None | N |
| T/S | 0.1691 | likely_benign | 0.1926 | benign | -0.981 | Destabilizing | 0.999 | D | 0.608 | neutral | N | 0.477051546 | None | None | N |
| T/V | 0.169 | likely_benign | 0.1812 | benign | -0.309 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| T/W | 0.7075 | likely_pathogenic | 0.7398 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| T/Y | 0.4215 | ambiguous | 0.4598 | ambiguous | -0.444 | Destabilizing | 1.0 | D | 0.885 | 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.