Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6724 | 20395;20396;20397 | chr2:178727195;178727194;178727193 | chr2:179591922;179591921;179591920 |
| N2AB | 6407 | 19444;19445;19446 | chr2:178727195;178727194;178727193 | chr2:179591922;179591921;179591920 |
| N2A | 5480 | 16663;16664;16665 | chr2:178727195;178727194;178727193 | chr2:179591922;179591921;179591920 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs140143513  |
None | 1.0 | N | 0.651 | 0.394 | 0.806643597941 | gnomAD-4.0.0 | 6.84458E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99742E-07 | 0 | 0 |
| V/I | rs140143513 |
-0.534 | 0.994 | N | 0.535 | 0.269 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 1.24111E-04 | 0 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 7.84E-06 | 0 |
| V/I | rs140143513 |
-0.534 | 0.994 | N | 0.535 | 0.269 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 1.93274E-04 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/I | rs140143513 |
-0.534 | 0.994 | N | 0.535 | 0.269 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/I | rs140143513 |
-0.534 | 0.994 | N | 0.535 | 0.269 | None | gnomAD-4.0.0 | 1.23981E-05 | None | None | None | None | N | None | 5.33632E-05 | 0 | None | 0 | 6.69045E-05 | None | 0 | 0 | 6.78309E-06 | 2.19751E-05 | 4.8043E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2324 | likely_benign | 0.2437 | benign | -2.021 | Highly Destabilizing | 0.979 | D | 0.53 | neutral | D | 0.522359761 | None | None | N |
| V/C | 0.8342 | likely_pathogenic | 0.8065 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/D | 0.4889 | ambiguous | 0.5384 | ambiguous | -2.857 | Highly Destabilizing | 0.999 | D | 0.733 | prob.delet. | N | 0.493339332 | None | None | N |
| V/E | 0.2842 | likely_benign | 0.3364 | benign | -2.674 | Highly Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| V/F | 0.1676 | likely_benign | 0.1753 | benign | -1.225 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.495821321 | None | None | N |
| V/G | 0.3676 | ambiguous | 0.3838 | ambiguous | -2.507 | Highly Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.487503209 | None | None | N |
| V/H | 0.6178 | likely_pathogenic | 0.6226 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| V/I | 0.0795 | likely_benign | 0.0782 | benign | -0.679 | Destabilizing | 0.994 | D | 0.535 | neutral | N | 0.483566416 | None | None | N |
| V/K | 0.4819 | ambiguous | 0.5417 | ambiguous | -1.743 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| V/L | 0.2064 | likely_benign | 0.211 | benign | -0.679 | Destabilizing | 0.987 | D | 0.521 | neutral | N | 0.481983027 | None | None | N |
| V/M | 0.1221 | likely_benign | 0.1237 | benign | -0.685 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| V/N | 0.3511 | ambiguous | 0.36 | ambiguous | -1.989 | Destabilizing | 0.993 | D | 0.732 | prob.delet. | None | None | None | None | N |
| V/P | 0.9816 | likely_pathogenic | 0.9862 | pathogenic | -1.1 | Destabilizing | 0.996 | D | 0.675 | neutral | None | None | None | None | N |
| V/Q | 0.3553 | ambiguous | 0.3852 | ambiguous | -1.895 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | N |
| V/R | 0.4278 | ambiguous | 0.4848 | ambiguous | -1.481 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| V/S | 0.2347 | likely_benign | 0.24 | benign | -2.511 | Highly Destabilizing | 0.965 | D | 0.518 | neutral | None | None | None | None | N |
| V/T | 0.193 | likely_benign | 0.2034 | benign | -2.208 | Highly Destabilizing | 0.984 | D | 0.52 | neutral | None | None | None | None | N |
| V/W | 0.8417 | likely_pathogenic | 0.8602 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/Y | 0.5424 | ambiguous | 0.5608 | ambiguous | -1.421 | Destabilizing | 1.0 | D | 0.671 | 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.