Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19080 | 57463;57464;57465 | chr2:178597932;178597931;178597930 | chr2:179462659;179462658;179462657 |
| N2AB | 17439 | 52540;52541;52542 | chr2:178597932;178597931;178597930 | chr2:179462659;179462658;179462657 |
| N2A | 16512 | 49759;49760;49761 | chr2:178597932;178597931;178597930 | chr2:179462659;179462658;179462657 |
| N2B | 10015 | 30268;30269;30270 | chr2:178597932;178597931;178597930 | chr2:179462659;179462658;179462657 |
| Novex-1 | 10140 | 30643;30644;30645 | chr2:178597932;178597931;178597930 | chr2:179462659;179462658;179462657 |
| Novex-2 | 10207 | 30844;30845;30846 | chr2:178597932;178597931;178597930 | chr2:179462659;179462658;179462657 |
| 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/G | rs2052184132  |
None | 0.03 | N | 0.666 | 0.154 | 0.315609569513 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs776003685 |
-0.515 | None | N | 0.122 | 0.146 | 0.215869574891 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs776003685 |
-0.515 | None | N | 0.122 | 0.146 | 0.215869574891 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs776003685 |
-0.515 | None | N | 0.122 | 0.146 | 0.215869574891 | gnomAD-4.0.0 | 3.04501E-06 | None | None | None | None | N | None | 3.49406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20496E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1053 | likely_benign | 0.0979 | benign | -1.152 | Destabilizing | None | N | 0.115 | neutral | N | 0.407636241 | None | None | N |
| V/C | 0.4967 | ambiguous | 0.4953 | ambiguous | -0.783 | Destabilizing | 0.685 | D | 0.518 | neutral | None | None | None | None | N |
| V/D | 0.2343 | likely_benign | 0.2355 | benign | -0.702 | Destabilizing | 0.177 | N | 0.729 | deleterious | N | 0.478370224 | None | None | N |
| V/E | 0.2168 | likely_benign | 0.2168 | benign | -0.696 | Destabilizing | 0.221 | N | 0.646 | neutral | None | None | None | None | N |
| V/F | 0.1438 | likely_benign | 0.1589 | benign | -0.805 | Destabilizing | 0.177 | N | 0.556 | neutral | N | 0.49417779 | None | None | N |
| V/G | 0.1688 | likely_benign | 0.1616 | benign | -1.458 | Destabilizing | 0.03 | N | 0.666 | prob.neutral | N | 0.51511321 | None | None | N |
| V/H | 0.3938 | ambiguous | 0.3749 | ambiguous | -0.868 | Destabilizing | 0.869 | D | 0.73 | deleterious | None | None | None | None | N |
| V/I | 0.0649 | likely_benign | 0.0686 | benign | -0.426 | Destabilizing | None | N | 0.122 | neutral | N | 0.471898363 | None | None | N |
| V/K | 0.2202 | likely_benign | 0.1865 | benign | -0.938 | Destabilizing | 0.221 | N | 0.647 | neutral | None | None | None | None | N |
| V/L | 0.1205 | likely_benign | 0.1283 | benign | -0.426 | Destabilizing | None | N | 0.126 | neutral | N | 0.444309117 | None | None | N |
| V/M | 0.104 | likely_benign | 0.1034 | benign | -0.411 | Destabilizing | 0.221 | N | 0.459 | neutral | None | None | None | None | N |
| V/N | 0.1466 | likely_benign | 0.1393 | benign | -0.779 | Destabilizing | 0.366 | N | 0.727 | deleterious | None | None | None | None | N |
| V/P | 0.2746 | likely_benign | 0.2449 | benign | -0.632 | Destabilizing | 0.221 | N | 0.662 | prob.neutral | None | None | None | None | N |
| V/Q | 0.2457 | likely_benign | 0.2234 | benign | -0.9 | Destabilizing | 0.366 | N | 0.667 | prob.neutral | None | None | None | None | N |
| V/R | 0.2159 | likely_benign | 0.1957 | benign | -0.462 | Destabilizing | 0.221 | N | 0.735 | deleterious | None | None | None | None | N |
| V/S | 0.1332 | likely_benign | 0.1218 | benign | -1.315 | Destabilizing | 0.039 | N | 0.585 | neutral | None | None | None | None | N |
| V/T | 0.0992 | likely_benign | 0.0949 | benign | -1.191 | Destabilizing | 0.039 | N | 0.409 | neutral | None | None | None | None | N |
| V/W | 0.6823 | likely_pathogenic | 0.7073 | pathogenic | -0.981 | Destabilizing | 0.869 | D | 0.755 | deleterious | None | None | None | None | N |
| V/Y | 0.3791 | ambiguous | 0.3982 | ambiguous | -0.672 | Destabilizing | 0.366 | N | 0.543 | 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.