Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35967 | 108124;108125;108126 | chr2:178527089;178527088;178527087 | chr2:179391816;179391815;179391814 |
| N2AB | 34326 | 103201;103202;103203 | chr2:178527089;178527088;178527087 | chr2:179391816;179391815;179391814 |
| N2A | 33399 | 100420;100421;100422 | chr2:178527089;178527088;178527087 | chr2:179391816;179391815;179391814 |
| N2B | 26902 | 80929;80930;80931 | chr2:178527089;178527088;178527087 | chr2:179391816;179391815;179391814 |
| Novex-1 | 27027 | 81304;81305;81306 | chr2:178527089;178527088;178527087 | chr2:179391816;179391815;179391814 |
| Novex-2 | 27094 | 81505;81506;81507 | chr2:178527089;178527088;178527087 | chr2:179391816;179391815;179391814 |
| 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 | rs780316966  |
-0.912 | 1.0 | D | 0.867 | 0.588 | 0.8637817974 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | -2.074(OBSL1) -1.416(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| G/E | rs780316966 |
-0.912 | 1.0 | D | 0.867 | 0.588 | 0.8637817974 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -2.074(OBSL1) -1.416(OBSCN) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs780316966 |
-0.912 | 1.0 | D | 0.867 | 0.588 | 0.8637817974 | gnomAD-4.0.0 | 6.81633E-06 | None | None | None | -2.074(OBSL1) -1.416(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32316E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.866 | 0.563 | 0.894262144695 | gnomAD-4.0.0 | 2.73665E-06 | None | None | None | -2.279(OBSL1) -1.612(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59764E-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 | 0.5295 | ambiguous | 0.6215 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.575862555 | None | -0.608(OBSL1) -0.647(OBSCN) | N |
| G/C | 0.7423 | likely_pathogenic | 0.7735 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | -2.25(OBSL1) -1.336(OBSCN) | N |
| G/D | 0.7646 | likely_pathogenic | 0.812 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | -1.908(OBSL1) -1.232(OBSCN) | N |
| G/E | 0.847 | likely_pathogenic | 0.8681 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.642997423 | None | -2.074(OBSL1) -1.416(OBSCN) | N |
| G/F | 0.9548 | likely_pathogenic | 0.9608 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | -1.185(OBSL1) -0.872(OBSCN) | N |
| G/H | 0.9322 | likely_pathogenic | 0.9433 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | -0.915(OBSL1) -0.168(OBSCN) | N |
| G/I | 0.9289 | likely_pathogenic | 0.9368 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | -1.101(OBSL1) -1.101(OBSCN) | N |
| G/K | 0.922 | likely_pathogenic | 0.9252 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | -2.386(OBSL1) -1.639(OBSCN) | N |
| G/L | 0.9386 | likely_pathogenic | 0.9544 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | -1.101(OBSL1) -1.101(OBSCN) | N |
| G/M | 0.9472 | likely_pathogenic | 0.9625 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | -1.496(OBSL1) -1.095(OBSCN) | N |
| G/N | 0.825 | likely_pathogenic | 0.8639 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | -1.709(OBSL1) -1.248(OBSCN) | N |
| G/P | 0.9936 | likely_pathogenic | 0.9941 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | -0.93(OBSL1) -0.947(OBSCN) | N |
| G/Q | 0.8636 | likely_pathogenic | 0.8846 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | -1.925(OBSL1) -1.375(OBSCN) | N |
| G/R | 0.8436 | likely_pathogenic | 0.8474 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.642795619 | None | -2.279(OBSL1) -1.612(OBSCN) | N |
| G/S | 0.389 | ambiguous | 0.452 | ambiguous | -0.936 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | -1.556(OBSL1) -0.883(OBSCN) | N |
| G/T | 0.8098 | likely_pathogenic | 0.8443 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | -1.759(OBSL1) -1.094(OBSCN) | N |
| G/V | 0.8829 | likely_pathogenic | 0.8988 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.642997423 | None | -0.93(OBSL1) -0.947(OBSCN) | N |
| G/W | 0.9538 | likely_pathogenic | 0.9536 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | -1.611(OBSL1) -1.069(OBSCN) | N |
| G/Y | 0.9433 | likely_pathogenic | 0.9479 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | -1.212(OBSL1) -0.868(OBSCN) | 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.