Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32006 | 96241;96242;96243 | chr2:178544213;178544212;178544211 | chr2:179408940;179408939;179408938 |
| N2AB | 30365 | 91318;91319;91320 | chr2:178544213;178544212;178544211 | chr2:179408940;179408939;179408938 |
| N2A | 29438 | 88537;88538;88539 | chr2:178544213;178544212;178544211 | chr2:179408940;179408939;179408938 |
| N2B | 22941 | 69046;69047;69048 | chr2:178544213;178544212;178544211 | chr2:179408940;179408939;179408938 |
| Novex-1 | 23066 | 69421;69422;69423 | chr2:178544213;178544212;178544211 | chr2:179408940;179408939;179408938 |
| Novex-2 | 23133 | 69622;69623;69624 | chr2:178544213;178544212;178544211 | chr2:179408940;179408939;179408938 |
| 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 | rs966964393  |
-1.132 | 0.104 | N | 0.263 | 0.202 | 0.409665357357 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/A | rs966964393 |
-1.132 | 0.104 | N | 0.263 | 0.202 | 0.409665357357 | gnomAD-4.0.0 | 1.36941E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80043E-05 | 0 | 0 |
| V/M | rs191786700 |
-0.427 | 0.09 | N | 0.228 | 0.055 | None | gnomAD-2.1.1 | 1.96795E-04 | None | None | None | None | N | None | 9.92146E-04 | 4.24592E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.17619E-04 | 1.41044E-04 |
| V/M | rs191786700 |
-0.427 | 0.09 | N | 0.228 | 0.055 | None | gnomAD-3.1.2 | 3.6139E-04 | None | None | None | None | N | None | 9.89096E-04 | 2.61746E-04 | 0 | 0 | 0 | None | 0 | 9.49367E-03 | 1.02902E-04 | 0 | 0 |
| V/M | rs191786700 |
-0.427 | 0.09 | N | 0.228 | 0.055 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 3E-03 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/M | rs191786700 |
-0.427 | 0.09 | N | 0.228 | 0.055 | None | gnomAD-4.0.0 | 2.00904E-04 | None | None | None | None | N | None | 1.17311E-03 | 3.66642E-04 | None | 0 | 0 | None | 0 | 1.65289E-03 | 1.54393E-04 | 4.39271E-05 | 2.88258E-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 | 0.1108 | likely_benign | 0.1135 | benign | -0.936 | Destabilizing | 0.104 | N | 0.263 | neutral | N | 0.506790089 | None | None | N |
| V/C | 0.5937 | likely_pathogenic | 0.6218 | pathogenic | -0.7 | Destabilizing | 0.984 | D | 0.308 | neutral | None | None | None | None | N |
| V/D | 0.3384 | likely_benign | 0.3252 | benign | -0.806 | Destabilizing | 0.724 | D | 0.541 | neutral | None | None | None | None | N |
| V/E | 0.183 | likely_benign | 0.1794 | benign | -0.906 | Destabilizing | 0.361 | N | 0.386 | neutral | N | 0.507136805 | None | None | N |
| V/F | 0.1779 | likely_benign | 0.1764 | benign | -1.012 | Destabilizing | 0.724 | D | 0.432 | neutral | None | None | None | None | N |
| V/G | 0.1865 | likely_benign | 0.1849 | benign | -1.125 | Destabilizing | 0.361 | N | 0.401 | neutral | N | 0.507830239 | None | None | N |
| V/H | 0.3967 | ambiguous | 0.4123 | ambiguous | -0.642 | Destabilizing | 0.984 | D | 0.441 | neutral | None | None | None | None | N |
| V/I | 0.0723 | likely_benign | 0.0741 | benign | -0.568 | Destabilizing | 0.134 | N | 0.33 | neutral | None | None | None | None | N |
| V/K | 0.1555 | likely_benign | 0.1577 | benign | -0.802 | Destabilizing | 0.428 | N | 0.415 | neutral | None | None | None | None | N |
| V/L | 0.132 | likely_benign | 0.1347 | benign | -0.568 | Destabilizing | 0.002 | N | 0.058 | neutral | N | 0.457438704 | None | None | N |
| V/M | 0.0932 | likely_benign | 0.1006 | benign | -0.386 | Destabilizing | 0.09 | N | 0.228 | neutral | N | 0.507830239 | None | None | N |
| V/N | 0.2068 | likely_benign | 0.2105 | benign | -0.488 | Destabilizing | 0.724 | D | 0.546 | neutral | None | None | None | None | N |
| V/P | 0.8456 | likely_pathogenic | 0.8058 | pathogenic | -0.655 | Destabilizing | 0.842 | D | 0.511 | neutral | None | None | None | None | N |
| V/Q | 0.1681 | likely_benign | 0.1702 | benign | -0.782 | Destabilizing | 0.842 | D | 0.53 | neutral | None | None | None | None | N |
| V/R | 0.1622 | likely_benign | 0.1583 | benign | -0.175 | Destabilizing | 0.724 | D | 0.579 | neutral | None | None | None | None | N |
| V/S | 0.1487 | likely_benign | 0.1525 | benign | -0.882 | Destabilizing | 0.012 | N | 0.173 | neutral | None | None | None | None | N |
| V/T | 0.1021 | likely_benign | 0.1084 | benign | -0.885 | Destabilizing | 0.272 | N | 0.239 | neutral | None | None | None | None | N |
| V/W | 0.7469 | likely_pathogenic | 0.7483 | pathogenic | -1.078 | Destabilizing | 0.984 | D | 0.517 | neutral | None | None | None | None | N |
| V/Y | 0.499 | ambiguous | 0.5043 | ambiguous | -0.807 | Destabilizing | 0.842 | D | 0.459 | neutral | 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.