Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8727 | 26404;26405;26406 | chr2:178715007;178715006;178715005 | chr2:179579734;179579733;179579732 |
| N2AB | 8410 | 25453;25454;25455 | chr2:178715007;178715006;178715005 | chr2:179579734;179579733;179579732 |
| N2A | 7483 | 22672;22673;22674 | chr2:178715007;178715006;178715005 | chr2:179579734;179579733;179579732 |
| 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 | rs544958705  |
None | 0.11 | N | 0.565 | 0.054 | 0.242825505644 | gnomAD-4.0.0 | 3.42702E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87645E-05 | 0 | 3.60274E-06 | 0 | 0 |
| V/G | None | None | 0.018 | N | 0.476 | 0.063 | 0.159798565429 | gnomAD-4.0.0 | 1.597E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44254E-05 | 0 |
| V/I | rs544958705 |
-0.609 | None | N | 0.143 | 0.109 | 0.0716867268079 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 5.12E-05 | None | 3.33E-05 | None | 0 | 0 | 0 |
| V/I | rs544958705 |
-0.609 | None | N | 0.143 | 0.109 | 0.0716867268079 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| V/I | rs544958705 |
-0.609 | None | N | 0.143 | 0.109 | 0.0716867268079 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/I | rs544958705 |
-0.609 | None | N | 0.143 | 0.109 | 0.0716867268079 | gnomAD-4.0.0 | 1.05509E-05 | None | None | None | None | N | None | 4.00043E-05 | 0 | None | 0 | 2.22955E-05 | None | 0 | 0 | 7.63829E-06 | 3.31558E-05 | 1.60267E-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 | 0.0715 | likely_benign | 0.0811 | benign | -1.077 | Destabilizing | None | N | 0.182 | neutral | N | 0.450493223 | None | None | N |
| V/C | 0.4329 | ambiguous | 0.479 | ambiguous | -0.732 | Destabilizing | 0.199 | N | 0.541 | neutral | None | None | None | None | N |
| V/D | 0.1607 | likely_benign | 0.1999 | benign | -0.819 | Destabilizing | 0.061 | N | 0.542 | neutral | N | 0.449935862 | None | None | N |
| V/E | 0.1401 | likely_benign | 0.1661 | benign | -0.896 | Destabilizing | 0.003 | N | 0.457 | neutral | None | None | None | None | N |
| V/F | 0.0759 | likely_benign | 0.0805 | benign | -1.034 | Destabilizing | 0.11 | N | 0.565 | neutral | N | 0.496534944 | None | None | N |
| V/G | 0.1033 | likely_benign | 0.1269 | benign | -1.303 | Destabilizing | 0.018 | N | 0.476 | neutral | N | 0.484221794 | None | None | N |
| V/H | 0.2183 | likely_benign | 0.2456 | benign | -0.833 | Destabilizing | None | N | 0.46 | neutral | None | None | None | None | N |
| V/I | 0.0619 | likely_benign | 0.0644 | benign | -0.598 | Destabilizing | None | N | 0.143 | neutral | N | 0.435390485 | None | None | N |
| V/K | 0.1491 | likely_benign | 0.1642 | benign | -0.863 | Destabilizing | None | N | 0.349 | neutral | None | None | None | None | N |
| V/L | 0.0877 | likely_benign | 0.1015 | benign | -0.598 | Destabilizing | None | N | 0.203 | neutral | N | 0.451474658 | None | None | N |
| V/M | 0.0809 | likely_benign | 0.0924 | benign | -0.441 | Destabilizing | 0.139 | N | 0.515 | neutral | None | None | None | None | N |
| V/N | 0.1085 | likely_benign | 0.1313 | benign | -0.522 | Destabilizing | 0.004 | N | 0.587 | neutral | None | None | None | None | N |
| V/P | 0.3018 | likely_benign | 0.369 | ambiguous | -0.722 | Destabilizing | 0.009 | N | 0.585 | neutral | None | None | None | None | N |
| V/Q | 0.15 | likely_benign | 0.1642 | benign | -0.788 | Destabilizing | None | N | 0.348 | neutral | None | None | None | None | N |
| V/R | 0.1195 | likely_benign | 0.1321 | benign | -0.284 | Destabilizing | 0.031 | N | 0.543 | neutral | None | None | None | None | N |
| V/S | 0.0756 | likely_benign | 0.0862 | benign | -0.963 | Destabilizing | 0.007 | N | 0.458 | neutral | None | None | None | None | N |
| V/T | 0.0735 | likely_benign | 0.0792 | benign | -0.938 | Destabilizing | None | N | 0.206 | neutral | None | None | None | None | N |
| V/W | 0.3934 | ambiguous | 0.4673 | ambiguous | -1.115 | Destabilizing | 0.934 | D | 0.613 | neutral | None | None | None | None | N |
| V/Y | 0.2351 | likely_benign | 0.2539 | benign | -0.845 | Destabilizing | 0.061 | N | 0.567 | 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.