Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2952 | 9079;9080;9081 | chr2:178769727;178769726;178769725 | chr2:179634454;179634453;179634452 |
| N2AB | 2952 | 9079;9080;9081 | chr2:178769727;178769726;178769725 | chr2:179634454;179634453;179634452 |
| N2A | 2952 | 9079;9080;9081 | chr2:178769727;178769726;178769725 | chr2:179634454;179634453;179634452 |
| N2B | 2906 | 8941;8942;8943 | chr2:178769727;178769726;178769725 | chr2:179634454;179634453;179634452 |
| Novex-1 | 2906 | 8941;8942;8943 | chr2:178769727;178769726;178769725 | chr2:179634454;179634453;179634452 |
| Novex-2 | 2906 | 8941;8942;8943 | chr2:178769727;178769726;178769725 | chr2:179634454;179634453;179634452 |
| Novex-3 | 2952 | 9079;9080;9081 | chr2:178769727;178769726;178769725 | chr2:179634454;179634453;179634452 |
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/A | rs879010411  |
-1.699 | 0.999 | D | 0.521 | 0.6 | 0.527356302626 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| T/A | rs879010411 |
-1.699 | 0.999 | D | 0.521 | 0.6 | 0.527356302626 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85742E-06 | 0 | 0 |
| T/I | rs1236189232 |
None | 1.0 | D | 0.829 | 0.616 | 0.777943573247 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1236189232 |
None | 1.0 | D | 0.829 | 0.616 | 0.777943573247 | gnomAD-4.0.0 | 1.15303E-05 | None | None | None | None | N | None | 1.69216E-05 | 0 | None | 0 | 1.6973E-04 | None | 0 | 0 | 2.39261E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2355 | likely_benign | 0.2014 | benign | -1.403 | Destabilizing | 0.999 | D | 0.521 | neutral | D | 0.554700237 | None | None | N |
| T/C | 0.6714 | likely_pathogenic | 0.6335 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| T/D | 0.8835 | likely_pathogenic | 0.8431 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/E | 0.7737 | likely_pathogenic | 0.7301 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| T/F | 0.7234 | likely_pathogenic | 0.645 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| T/G | 0.6961 | likely_pathogenic | 0.6405 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/H | 0.4981 | ambiguous | 0.4631 | ambiguous | -1.79 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| T/I | 0.4106 | ambiguous | 0.3369 | benign | -0.235 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.607540195 | None | None | N |
| T/K | 0.3969 | ambiguous | 0.393 | ambiguous | -0.417 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.540556674 | None | None | N |
| T/L | 0.3186 | likely_benign | 0.2724 | benign | -0.235 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/M | 0.1924 | likely_benign | 0.1704 | benign | -0.502 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| T/N | 0.3777 | ambiguous | 0.33 | benign | -1.293 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| T/P | 0.9704 | likely_pathogenic | 0.9431 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.724380751 | None | None | N |
| T/Q | 0.4626 | ambiguous | 0.4362 | ambiguous | -0.934 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/R | 0.3412 | ambiguous | 0.3154 | benign | -0.778 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.584417036 | None | None | N |
| T/S | 0.2098 | likely_benign | 0.1923 | benign | -1.501 | Destabilizing | 0.999 | D | 0.499 | neutral | N | 0.494409306 | None | None | N |
| T/V | 0.3053 | likely_benign | 0.2582 | benign | -0.597 | Destabilizing | 0.999 | D | 0.546 | neutral | None | None | None | None | N |
| T/W | 0.9297 | likely_pathogenic | 0.9051 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| T/Y | 0.7163 | likely_pathogenic | 0.6473 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.881 | 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.