Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15 | 268;269;270 | chr2:178804600;178804599;178804598 | chr2:179669327;179669326;179669325 |
| N2AB | 15 | 268;269;270 | chr2:178804600;178804599;178804598 | chr2:179669327;179669326;179669325 |
| N2A | 15 | 268;269;270 | chr2:178804600;178804599;178804598 | chr2:179669327;179669326;179669325 |
| N2B | 15 | 268;269;270 | chr2:178804600;178804599;178804598 | chr2:179669327;179669326;179669325 |
| Novex-1 | 15 | 268;269;270 | chr2:178804600;178804599;178804598 | chr2:179669327;179669326;179669325 |
| Novex-2 | 15 | 268;269;270 | chr2:178804600;178804599;178804598 | chr2:179669327;179669326;179669325 |
| Novex-3 | 15 | 268;269;270 | chr2:178804600;178804599;178804598 | chr2:179669327;179669326;179669325 |
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 | rs1471462382  |
-0.906 | 0.995 | N | 0.476 | 0.524 | 0.793074248023 | gnomAD-2.1.1 | 1.19E-05 | None | None | None | -0.798(TCAP) | N | None | 0 | 5.78E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | rs1471462382 |
-0.906 | 0.995 | N | 0.476 | 0.524 | 0.793074248023 | gnomAD-4.0.0 | 4.10473E-06 | None | None | None | -0.798(TCAP) | N | None | 0 | 4.47227E-05 | None | 0 | 0 | None | 0 | 0 | 2.69801E-06 | 1.15969E-05 | 0 |
| V/I | rs201857541 |
0.073 | 0.681 | N | 0.257 | 0.269 | None | gnomAD-2.1.1 | 1.48668E-04 | None | None | None | -1.001(TCAP) | N | None | 0 | 8.47E-05 | None | 5.79486E-04 | 5.02E-05 | None | 4.25059E-04 | None | 0 | 1.47342E-04 | 0 |
| V/I | rs201857541 |
0.073 | 0.681 | N | 0.257 | 0.269 | None | gnomAD-3.1.2 | 1.11741E-04 | None | None | None | -1.001(TCAP) | N | None | 0 | 1.30907E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.76393E-04 | 6.21891E-04 | 0 |
| V/I | rs201857541 |
0.073 | 0.681 | N | 0.257 | 0.269 | None | 1000 genomes | 1.99681E-04 | None | None | None | -1.001(TCAP) | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/I | rs201857541 |
0.073 | 0.681 | N | 0.257 | 0.269 | None | gnomAD-4.0.0 | 9.23189E-05 | None | None | None | -1.001(TCAP) | N | None | 2.66553E-05 | 8.33111E-05 | None | 4.72941E-04 | 2.22886E-05 | None | 4.68691E-05 | 0 | 7.03422E-05 | 3.73438E-04 | 1.12014E-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 | 0.1498 | likely_benign | 0.1552 | benign | -1.095 | Destabilizing | 0.995 | D | 0.476 | neutral | N | 0.495256817 | None | -0.798(TCAP) | N |
| V/C | 0.9301 | likely_pathogenic | 0.9224 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | -0.351(TCAP) | N |
| V/D | 0.4952 | ambiguous | 0.4772 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.559618332 | None | 0.395(TCAP) | N |
| V/E | 0.2983 | likely_benign | 0.28 | benign | -0.456 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | 0.318(TCAP) | N |
| V/F | 0.2516 | likely_benign | 0.2245 | benign | -0.685 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.516953487 | None | -0.8(TCAP) | N |
| V/G | 0.3572 | ambiguous | 0.3398 | benign | -1.446 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.614380248 | None | -0.733(TCAP) | N |
| V/H | 0.6949 | likely_pathogenic | 0.6769 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | -0.33(TCAP) | N |
| V/I | 0.092 | likely_benign | 0.0905 | benign | -0.232 | Destabilizing | 0.681 | D | 0.257 | neutral | N | 0.438828759 | None | -1.001(TCAP) | N |
| V/K | 0.3389 | likely_benign | 0.3217 | benign | -0.824 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | -0.732(TCAP) | N |
| V/L | 0.2334 | likely_benign | 0.2219 | benign | -0.232 | Destabilizing | 0.937 | D | 0.373 | neutral | N | 0.45466495 | None | -1.001(TCAP) | N |
| V/M | 0.1446 | likely_benign | 0.1306 | benign | -0.293 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | -1.033(TCAP) | N |
| V/N | 0.3832 | ambiguous | 0.373 | ambiguous | -0.724 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | -0.373(TCAP) | N |
| V/P | 0.8851 | likely_pathogenic | 0.8781 | pathogenic | -0.483 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | -0.933(TCAP) | N |
| V/Q | 0.3353 | likely_benign | 0.3158 | benign | -0.761 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | -0.311(TCAP) | N |
| V/R | 0.3163 | likely_benign | 0.2989 | benign | -0.528 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | -0.961(TCAP) | N |
| V/S | 0.2525 | likely_benign | 0.2517 | benign | -1.321 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | -0.199(TCAP) | N |
| V/T | 0.161 | likely_benign | 0.1583 | benign | -1.148 | Destabilizing | 0.995 | D | 0.605 | neutral | None | None | None | -0.312(TCAP) | N |
| V/W | 0.9093 | likely_pathogenic | 0.895 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | -1.063(TCAP) | N |
| V/Y | 0.7501 | likely_pathogenic | 0.7248 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | -0.963(TCAP) | 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.