Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35756 | 107491;107492;107493 | chr2:178528385;178528384;178528383 | chr2:179393112;179393111;179393110 |
| N2AB | 34115 | 102568;102569;102570 | chr2:178528385;178528384;178528383 | chr2:179393112;179393111;179393110 |
| N2A | 33188 | 99787;99788;99789 | chr2:178528385;178528384;178528383 | chr2:179393112;179393111;179393110 |
| N2B | 26691 | 80296;80297;80298 | chr2:178528385;178528384;178528383 | chr2:179393112;179393111;179393110 |
| Novex-1 | 26816 | 80671;80672;80673 | chr2:178528385;178528384;178528383 | chr2:179393112;179393111;179393110 |
| Novex-2 | 26883 | 80872;80873;80874 | chr2:178528385;178528384;178528383 | chr2:179393112;179393111;179393110 |
| 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 | rs16866378  |
-1.493 | 0.001 | N | 0.119 | 0.135 | None | gnomAD-2.1.1 | 4.51767E-02 | None | None | None | None | N | None | 1.2866E-01 | 3.40536E-02 | None | 4.16586E-02 | 1.75615E-01 | None | 4.98791E-02 | None | 3.15697E-03 | 2.03248E-02 | 3.9422E-02 |
| V/A | rs16866378 |
-1.493 | 0.001 | N | 0.119 | 0.135 | None | gnomAD-3.1.2 | 5.7505E-02 | None | None | None | None | N | None | 1.26986E-01 | 4.54783E-02 | 8.77193E-03 | 4.20749E-02 | 1.66603E-01 | None | 2.35272E-03 | 6.01266E-02 | 2.02117E-02 | 4.67909E-02 | 6.26195E-02 |
| V/A | rs16866378 |
-1.493 | 0.001 | N | 0.119 | 0.135 | None | 1000 genomes | 9.20527E-02 | None | None | None | None | N | None | 1.354E-01 | 4.03E-02 | None | None | 1.736E-01 | 3.18E-02 | None | None | None | 4.81E-02 | None |
| V/A | rs16866378 |
-1.493 | 0.001 | N | 0.119 | 0.135 | None | gnomAD-4.0.0 | 3.26231E-02 | None | None | None | None | N | None | 1.27823E-01 | 3.87038E-02 | None | 4.24691E-02 | 1.77392E-01 | None | 3.17069E-03 | 9.78225E-02 | 2.01213E-02 | 4.90448E-02 | 4.01716E-02 |
| V/L | None | None | 0.015 | N | 0.255 | 0.114 | 0.110078149338 | 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 |
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 | 0.1534 | likely_benign | 0.1228 | benign | -1.597 | Destabilizing | 0.001 | N | 0.119 | neutral | N | 0.507371666 | None | None | N |
| V/C | 0.699 | likely_pathogenic | 0.6891 | pathogenic | -1.203 | Destabilizing | 0.944 | D | 0.556 | neutral | None | None | None | None | N |
| V/D | 0.2849 | likely_benign | 0.254 | benign | -1.348 | Destabilizing | 0.69 | D | 0.627 | neutral | None | None | None | None | N |
| V/E | 0.2426 | likely_benign | 0.2098 | benign | -1.334 | Destabilizing | 0.324 | N | 0.615 | neutral | N | 0.493402291 | None | None | N |
| V/F | 0.1523 | likely_benign | 0.1357 | benign | -1.28 | Destabilizing | 0.69 | D | 0.595 | neutral | None | None | None | None | N |
| V/G | 0.204 | likely_benign | 0.1905 | benign | -1.927 | Destabilizing | 0.193 | N | 0.598 | neutral | N | 0.473317807 | None | None | N |
| V/H | 0.423 | ambiguous | 0.3852 | ambiguous | -1.394 | Destabilizing | 0.981 | D | 0.621 | neutral | None | None | None | None | N |
| V/I | 0.0691 | likely_benign | 0.0659 | benign | -0.783 | Destabilizing | 0.001 | N | 0.153 | neutral | N | 0.49526916 | None | None | N |
| V/K | 0.2527 | likely_benign | 0.2127 | benign | -1.157 | Destabilizing | 0.388 | N | 0.613 | neutral | None | None | None | None | N |
| V/L | 0.1609 | likely_benign | 0.1568 | benign | -0.783 | Destabilizing | 0.015 | N | 0.255 | neutral | N | 0.461831377 | None | None | N |
| V/M | 0.1184 | likely_benign | 0.1147 | benign | -0.647 | Destabilizing | 0.024 | N | 0.281 | neutral | None | None | None | None | N |
| V/N | 0.1608 | likely_benign | 0.1372 | benign | -1.005 | Destabilizing | 0.69 | D | 0.627 | neutral | None | None | None | None | N |
| V/P | 0.8712 | likely_pathogenic | 0.8212 | pathogenic | -1.02 | Destabilizing | 0.818 | D | 0.606 | neutral | None | None | None | None | N |
| V/Q | 0.2515 | likely_benign | 0.2246 | benign | -1.182 | Destabilizing | 0.818 | D | 0.607 | neutral | None | None | None | None | N |
| V/R | 0.2034 | likely_benign | 0.169 | benign | -0.665 | Destabilizing | 0.69 | D | 0.631 | neutral | None | None | None | None | N |
| V/S | 0.1422 | likely_benign | 0.1267 | benign | -1.605 | Destabilizing | 0.241 | N | 0.571 | neutral | None | None | None | None | N |
| V/T | 0.1048 | likely_benign | 0.0937 | benign | -1.476 | Destabilizing | 0.001 | N | 0.115 | neutral | None | None | None | None | N |
| V/W | 0.7634 | likely_pathogenic | 0.7364 | pathogenic | -1.443 | Destabilizing | 0.981 | D | 0.637 | neutral | None | None | None | None | N |
| V/Y | 0.4264 | ambiguous | 0.3833 | ambiguous | -1.141 | Destabilizing | 0.818 | D | 0.583 | 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.