Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20918 | 62977;62978;62979 | chr2:178588973;178588972;178588971 | chr2:179453700;179453699;179453698 |
| N2AB | 19277 | 58054;58055;58056 | chr2:178588973;178588972;178588971 | chr2:179453700;179453699;179453698 |
| N2A | 18350 | 55273;55274;55275 | chr2:178588973;178588972;178588971 | chr2:179453700;179453699;179453698 |
| N2B | 11853 | 35782;35783;35784 | chr2:178588973;178588972;178588971 | chr2:179453700;179453699;179453698 |
| Novex-1 | 11978 | 36157;36158;36159 | chr2:178588973;178588972;178588971 | chr2:179453700;179453699;179453698 |
| Novex-2 | 12045 | 36358;36359;36360 | chr2:178588973;178588972;178588971 | chr2:179453700;179453699;179453698 |
| 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 | rs1290792058  |
-2.048 | 0.004 | N | 0.464 | 0.177 | 0.531972677126 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| V/A | rs1290792058 |
-2.048 | 0.004 | N | 0.464 | 0.177 | 0.531972677126 | gnomAD-4.0.0 | 6.84795E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99748E-07 | 0 | 0 |
| V/I | rs1488554546 |
None | 0.001 | N | 0.239 | 0.06 | 0.297718772494 | gnomAD-4.0.0 | 6.84827E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99774E-07 | 0 | 0 |
| V/L | rs1488554546 |
-0.399 | 0.001 | N | 0.322 | 0.067 | 0.325533332567 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| V/L | rs1488554546 |
-0.399 | 0.001 | N | 0.322 | 0.067 | 0.325533332567 | gnomAD-4.0.0 | 3.42414E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49887E-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 | 0.3836 | ambiguous | 0.3718 | ambiguous | -1.748 | Destabilizing | 0.004 | N | 0.464 | neutral | N | 0.519862881 | None | None | N |
| V/C | 0.7491 | likely_pathogenic | 0.7515 | pathogenic | -1.442 | Destabilizing | 0.968 | D | 0.695 | prob.neutral | None | None | None | None | N |
| V/D | 0.8777 | likely_pathogenic | 0.8591 | pathogenic | -1.662 | Destabilizing | 0.667 | D | 0.788 | deleterious | N | 0.467036691 | None | None | N |
| V/E | 0.7852 | likely_pathogenic | 0.7752 | pathogenic | -1.519 | Destabilizing | 0.726 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/F | 0.389 | ambiguous | 0.3839 | ambiguous | -1.072 | Destabilizing | 0.497 | N | 0.748 | deleterious | N | 0.479913933 | None | None | N |
| V/G | 0.5954 | likely_pathogenic | 0.5687 | pathogenic | -2.218 | Highly Destabilizing | 0.497 | N | 0.752 | deleterious | N | 0.492964282 | None | None | N |
| V/H | 0.8697 | likely_pathogenic | 0.8763 | pathogenic | -1.838 | Destabilizing | 0.968 | D | 0.776 | deleterious | None | None | None | None | N |
| V/I | 0.0694 | likely_benign | 0.0681 | benign | -0.486 | Destabilizing | 0.001 | N | 0.239 | neutral | N | 0.457931775 | None | None | N |
| V/K | 0.84 | likely_pathogenic | 0.8385 | pathogenic | -1.276 | Destabilizing | 0.726 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/L | 0.1985 | likely_benign | 0.1963 | benign | -0.486 | Destabilizing | 0.001 | N | 0.322 | neutral | N | 0.496218018 | None | None | N |
| V/M | 0.2016 | likely_benign | 0.2025 | benign | -0.598 | Destabilizing | 0.567 | D | 0.704 | prob.neutral | None | None | None | None | N |
| V/N | 0.603 | likely_pathogenic | 0.6045 | pathogenic | -1.363 | Destabilizing | 0.89 | D | 0.791 | deleterious | None | None | None | None | N |
| V/P | 0.8761 | likely_pathogenic | 0.8886 | pathogenic | -0.875 | Destabilizing | 0.726 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/Q | 0.7189 | likely_pathogenic | 0.7237 | pathogenic | -1.319 | Destabilizing | 0.89 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/R | 0.7997 | likely_pathogenic | 0.8013 | pathogenic | -1.067 | Destabilizing | 0.726 | D | 0.791 | deleterious | None | None | None | None | N |
| V/S | 0.5008 | ambiguous | 0.4936 | ambiguous | -2.066 | Highly Destabilizing | 0.396 | N | 0.731 | prob.delet. | None | None | None | None | N |
| V/T | 0.4222 | ambiguous | 0.4116 | ambiguous | -1.782 | Destabilizing | 0.272 | N | 0.681 | prob.neutral | None | None | None | None | N |
| V/W | 0.9591 | likely_pathogenic | 0.9564 | pathogenic | -1.414 | Destabilizing | 0.968 | D | 0.755 | deleterious | None | None | None | None | N |
| V/Y | 0.8225 | likely_pathogenic | 0.8246 | pathogenic | -1.049 | Destabilizing | 0.726 | D | 0.735 | prob.delet. | 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.