Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15750 | 47473;47474;47475 | chr2:178618210;178618209;178618208 | chr2:179482937;179482936;179482935 |
| N2AB | 14109 | 42550;42551;42552 | chr2:178618210;178618209;178618208 | chr2:179482937;179482936;179482935 |
| N2A | 13182 | 39769;39770;39771 | chr2:178618210;178618209;178618208 | chr2:179482937;179482936;179482935 |
| N2B | 6685 | 20278;20279;20280 | chr2:178618210;178618209;178618208 | chr2:179482937;179482936;179482935 |
| Novex-1 | 6810 | 20653;20654;20655 | chr2:178618210;178618209;178618208 | chr2:179482937;179482936;179482935 |
| Novex-2 | 6877 | 20854;20855;20856 | chr2:178618210;178618209;178618208 | chr2:179482937;179482936;179482935 |
| 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/I | rs72677232  |
-0.387 | 0.994 | N | 0.631 | 0.206 | None | gnomAD-2.1.1 | 1.57552E-03 | None | None | None | None | N | None | 6.2081E-04 | 1.41675E-04 | None | 0 | 0 | None | 0 | None | 1.2001E-03 | 3.00515E-03 | 9.85915E-04 |
| V/I | rs72677232 |
-0.387 | 0.994 | N | 0.631 | 0.206 | None | gnomAD-3.1.2 | 1.92898E-03 | None | None | None | None | N | None | 5.07173E-04 | 1.31337E-04 | 3.94737E-02 | 0 | 0 | None | 6.5901E-04 | 0 | 3.34315E-03 | 0 | 0 |
| V/I | rs72677232 |
-0.387 | 0.994 | N | 0.631 | 0.206 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 3E-03 | None | None | None | 0 | None |
| V/I | rs72677232 |
-0.387 | 0.994 | N | 0.631 | 0.206 | None | gnomAD-4.0.0 | 2.76944E-03 | None | None | None | None | N | None | 4.53854E-04 | 1.83566E-04 | None | 3.38432E-05 | 0 | None | 1.00022E-03 | 0 | 3.59163E-03 | 0 | 1.36196E-03 |
| V/L | None | None | 0.994 | D | 0.645 | 0.28 | 0.448597761117 | gnomAD-4.0.0 | 6.84655E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99896E-07 | 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 | 0.4059 | ambiguous | 0.3372 | benign | -1.709 | Destabilizing | 0.997 | D | 0.683 | prob.neutral | D | 0.533271643 | None | None | N |
| V/C | 0.8652 | likely_pathogenic | 0.7865 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/D | 0.9307 | likely_pathogenic | 0.9202 | pathogenic | -1.814 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| V/E | 0.697 | likely_pathogenic | 0.6438 | pathogenic | -1.689 | Destabilizing | 0.999 | D | 0.888 | deleterious | D | 0.667963127 | None | None | N |
| V/F | 0.4557 | ambiguous | 0.4075 | ambiguous | -1.038 | Destabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | N |
| V/G | 0.7059 | likely_pathogenic | 0.6831 | pathogenic | -2.146 | Highly Destabilizing | 0.999 | D | 0.864 | deleterious | D | 0.668467316 | None | None | N |
| V/H | 0.8987 | likely_pathogenic | 0.8491 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/I | 0.0976 | likely_benign | 0.0871 | benign | -0.549 | Destabilizing | 0.994 | D | 0.631 | neutral | N | 0.474981688 | None | None | N |
| V/K | 0.6742 | likely_pathogenic | 0.6009 | pathogenic | -1.498 | Destabilizing | 0.999 | D | 0.891 | deleterious | None | None | None | None | N |
| V/L | 0.4229 | ambiguous | 0.3585 | ambiguous | -0.549 | Destabilizing | 0.994 | D | 0.645 | neutral | D | 0.541991052 | None | None | N |
| V/M | 0.2844 | likely_benign | 0.2448 | benign | -0.469 | Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| V/N | 0.8638 | likely_pathogenic | 0.8301 | pathogenic | -1.552 | Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
| V/P | 0.9792 | likely_pathogenic | 0.9722 | pathogenic | -0.904 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| V/Q | 0.6329 | likely_pathogenic | 0.5496 | ambiguous | -1.551 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| V/R | 0.6296 | likely_pathogenic | 0.5662 | pathogenic | -1.111 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| V/S | 0.6484 | likely_pathogenic | 0.5875 | pathogenic | -2.137 | Highly Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| V/T | 0.3133 | likely_benign | 0.2538 | benign | -1.88 | Destabilizing | 0.998 | D | 0.67 | prob.neutral | None | None | None | None | N |
| V/W | 0.9595 | likely_pathogenic | 0.9418 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/Y | 0.8793 | likely_pathogenic | 0.8326 | pathogenic | -1.021 | Destabilizing | 0.999 | D | 0.846 | deleterious | 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.