Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6286 | 19081;19082;19083 | chr2:178729300;178729299;178729298 | chr2:179594027;179594026;179594025 |
| N2AB | 5969 | 18130;18131;18132 | chr2:178729300;178729299;178729298 | chr2:179594027;179594026;179594025 |
| N2A | 5042 | 15349;15350;15351 | chr2:178729300;178729299;178729298 | chr2:179594027;179594026;179594025 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs372581135  |
-2.09 | 0.78 | N | 0.71 | 0.29 | None | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 6.5E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs372581135 |
-2.09 | 0.78 | N | 0.71 | 0.29 | None | gnomAD-4.0.0 | 3.24726E-06 | None | None | None | None | N | None | 1.16577E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs149131555 |
-0.15 | 0.64 | N | 0.555 | 0.124 | None | gnomAD-2.1.1 | 5.87146E-04 | None | None | None | None | N | None | 6.29191E-03 | 2.2757E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.89E-06 | 2.83768E-04 |
| V/I | rs149131555 |
-0.15 | 0.64 | N | 0.555 | 0.124 | None | gnomAD-3.1.2 | 1.77464E-03 | None | None | None | None | N | None | 6.22497E-03 | 4.58295E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07039E-04 | 9.57854E-04 |
| V/I | rs149131555 |
-0.15 | 0.64 | N | 0.555 | 0.124 | None | 1000 genomes | 3.39457E-03 | None | None | None | None | N | None | 1.29E-02 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs149131555 |
-0.15 | 0.64 | N | 0.555 | 0.124 | None | gnomAD-4.0.0 | 3.30432E-04 | None | None | None | None | N | None | 6.29636E-03 | 3.00802E-04 | None | 0 | 0 | None | 0 | 0 | 1.52886E-05 | 1.10395E-05 | 3.69098E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4938 | ambiguous | 0.4333 | ambiguous | -2.306 | Highly Destabilizing | 0.78 | D | 0.71 | prob.delet. | N | 0.460574548 | None | None | N |
| V/C | 0.9229 | likely_pathogenic | 0.9167 | pathogenic | -1.906 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| V/D | 0.978 | likely_pathogenic | 0.9671 | pathogenic | -2.785 | Highly Destabilizing | 0.995 | D | 0.844 | deleterious | N | 0.504531739 | None | None | N |
| V/E | 0.9372 | likely_pathogenic | 0.9118 | pathogenic | -2.581 | Highly Destabilizing | 0.996 | D | 0.814 | deleterious | None | None | None | None | N |
| V/F | 0.3046 | likely_benign | 0.3006 | benign | -1.42 | Destabilizing | 0.968 | D | 0.805 | deleterious | N | 0.476766246 | None | None | N |
| V/G | 0.709 | likely_pathogenic | 0.6464 | pathogenic | -2.855 | Highly Destabilizing | 0.995 | D | 0.836 | deleterious | N | 0.504531739 | None | None | N |
| V/H | 0.9671 | likely_pathogenic | 0.9574 | pathogenic | -2.519 | Highly Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| V/I | 0.081 | likely_benign | 0.0823 | benign | -0.774 | Destabilizing | 0.64 | D | 0.555 | neutral | N | 0.501367547 | None | None | N |
| V/K | 0.9616 | likely_pathogenic | 0.9489 | pathogenic | -2.022 | Highly Destabilizing | 0.988 | D | 0.811 | deleterious | None | None | None | None | N |
| V/L | 0.2201 | likely_benign | 0.1987 | benign | -0.774 | Destabilizing | 0.004 | N | 0.361 | neutral | N | 0.393489855 | None | None | N |
| V/M | 0.2634 | likely_benign | 0.2438 | benign | -0.762 | Destabilizing | 0.976 | D | 0.758 | deleterious | None | None | None | None | N |
| V/N | 0.9334 | likely_pathogenic | 0.9149 | pathogenic | -2.277 | Highly Destabilizing | 0.996 | D | 0.831 | deleterious | None | None | None | None | N |
| V/P | 0.9474 | likely_pathogenic | 0.936 | pathogenic | -1.257 | Destabilizing | 0.996 | D | 0.814 | deleterious | None | None | None | None | N |
| V/Q | 0.9401 | likely_pathogenic | 0.9218 | pathogenic | -2.152 | Highly Destabilizing | 0.996 | D | 0.794 | deleterious | None | None | None | None | N |
| V/R | 0.941 | likely_pathogenic | 0.9211 | pathogenic | -1.766 | Destabilizing | 0.988 | D | 0.84 | deleterious | None | None | None | None | N |
| V/S | 0.8332 | likely_pathogenic | 0.7882 | pathogenic | -2.938 | Highly Destabilizing | 0.988 | D | 0.811 | deleterious | None | None | None | None | N |
| V/T | 0.644 | likely_pathogenic | 0.5848 | pathogenic | -2.583 | Highly Destabilizing | 0.959 | D | 0.688 | prob.neutral | None | None | None | None | N |
| V/W | 0.9505 | likely_pathogenic | 0.943 | pathogenic | -1.893 | Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| V/Y | 0.8569 | likely_pathogenic | 0.846 | pathogenic | -1.554 | Destabilizing | 0.988 | D | 0.797 | 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.