Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10052 | 30379;30380;30381 | chr2:178704216;178704215;178704214 | chr2:179568943;179568942;179568941 |
| N2AB | 9735 | 29428;29429;29430 | chr2:178704216;178704215;178704214 | chr2:179568943;179568942;179568941 |
| N2A | 8808 | 26647;26648;26649 | chr2:178704216;178704215;178704214 | chr2:179568943;179568942;179568941 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.425 | None | 0.291 | 0.205 | 0.134241683229 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/T | rs746145079  |
-0.759 | 0.01 | None | 0.083 | 0.08 | 0.0920862733494 | gnomAD-2.1.1 | 8.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| A/T | rs746145079 |
-0.759 | 0.01 | None | 0.083 | 0.08 | 0.0920862733494 | gnomAD-4.0.0 | 4.10488E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 3.59761E-06 | 0 | 1.65634E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8679 | likely_pathogenic | 0.8845 | pathogenic | -0.817 | Destabilizing | 0.981 | D | 0.323 | neutral | None | None | None | None | N |
| A/D | 0.6859 | likely_pathogenic | 0.5916 | pathogenic | -1.014 | Destabilizing | 0.704 | D | 0.39 | neutral | None | None | None | None | N |
| A/E | 0.5328 | ambiguous | 0.4499 | ambiguous | -1.148 | Destabilizing | 0.642 | D | 0.324 | neutral | None | None | None | None | N |
| A/F | 0.6721 | likely_pathogenic | 0.644 | pathogenic | -1.106 | Destabilizing | 0.893 | D | 0.388 | neutral | None | None | None | None | N |
| A/G | 0.3054 | likely_benign | 0.2938 | benign | -0.765 | Destabilizing | 0.425 | N | 0.291 | neutral | None | None | None | None | N |
| A/H | 0.7702 | likely_pathogenic | 0.7493 | pathogenic | -0.801 | Destabilizing | 0.995 | D | 0.35 | neutral | None | None | None | None | N |
| A/I | 0.5443 | ambiguous | 0.4889 | ambiguous | -0.535 | Destabilizing | 0.543 | D | 0.334 | neutral | None | None | None | None | N |
| A/K | 0.7225 | likely_pathogenic | 0.6588 | pathogenic | -1.09 | Destabilizing | 0.704 | D | 0.332 | neutral | None | None | None | None | N |
| A/L | 0.3409 | ambiguous | 0.3089 | benign | -0.535 | Destabilizing | 0.003 | N | 0.163 | neutral | None | None | None | None | N |
| A/M | 0.42 | ambiguous | 0.4105 | ambiguous | -0.431 | Destabilizing | 0.893 | D | 0.312 | neutral | None | None | None | None | N |
| A/N | 0.538 | ambiguous | 0.5031 | ambiguous | -0.695 | Destabilizing | 0.893 | D | 0.404 | neutral | None | None | None | None | N |
| A/P | 0.3078 | likely_benign | 0.2743 | benign | -0.538 | Destabilizing | 0.002 | N | 0.145 | neutral | None | None | None | None | N |
| A/Q | 0.5587 | ambiguous | 0.5393 | ambiguous | -1.0 | Destabilizing | 0.944 | D | 0.339 | neutral | None | None | None | None | N |
| A/R | 0.6354 | likely_pathogenic | 0.5973 | pathogenic | -0.524 | Destabilizing | 0.893 | D | 0.339 | neutral | None | None | None | None | N |
| A/S | 0.1534 | likely_benign | 0.1401 | benign | -0.893 | Destabilizing | 0.27 | N | 0.37 | neutral | None | None | None | None | N |
| A/T | 0.1587 | likely_benign | 0.1399 | benign | -0.954 | Destabilizing | 0.01 | N | 0.083 | neutral | None | None | None | None | N |
| A/V | 0.2769 | likely_benign | 0.2367 | benign | -0.538 | Destabilizing | 0.27 | N | 0.338 | neutral | None | None | None | None | N |
| A/W | 0.9022 | likely_pathogenic | 0.9091 | pathogenic | -1.272 | Destabilizing | 0.995 | D | 0.428 | neutral | None | None | None | None | N |
| A/Y | 0.7923 | likely_pathogenic | 0.7719 | pathogenic | -0.948 | Destabilizing | 0.981 | D | 0.386 | 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.