Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8322 | 25189;25190;25191 | chr2:178718042;178718041;178718040 | chr2:179582769;179582768;179582767 |
| N2AB | 8005 | 24238;24239;24240 | chr2:178718042;178718041;178718040 | chr2:179582769;179582768;179582767 |
| N2A | 7078 | 21457;21458;21459 | chr2:178718042;178718041;178718040 | chr2:179582769;179582768;179582767 |
| 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/A | None | None | 0.013 | D | 0.305 | 0.199 | 0.551879694509 | gnomAD-4.0.0 | 4.77412E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57604E-06 | 0 | 0 |
| V/I | rs201571580  |
-0.466 | 0.602 | N | 0.539 | 0.178 | 0.539612970712 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/I | rs201571580 |
-0.466 | 0.602 | N | 0.539 | 0.178 | 0.539612970712 | gnomAD-4.0.0 | 6.84232E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99514E-07 | 0 | 0 |
| V/L | rs201571580 |
-0.5 | 0.385 | N | 0.555 | 0.184 | 0.451118754121 | gnomAD-2.1.1 | 5.88962E-04 | None | None | None | None | N | None | 8.27E-05 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 3.19744E-04 | 1.17191E-03 | 4.21467E-04 |
| V/L | rs201571580 |
-0.5 | 0.385 | N | 0.555 | 0.184 | 0.451118754121 | gnomAD-3.1.2 | 4.86349E-04 | None | None | None | None | N | None | 1.20656E-04 | 1.30959E-04 | 0 | 0 | 0 | None | 7.53721E-04 | 0 | 8.52766E-04 | 0 | 4.77555E-04 |
| V/L | rs201571580 |
-0.5 | 0.385 | N | 0.555 | 0.184 | 0.451118754121 | gnomAD-4.0.0 | 6.38259E-04 | None | None | None | None | N | None | 1.46631E-04 | 8.33167E-05 | None | 0 | 0 | None | 5.31184E-04 | 0 | 7.94258E-04 | 0 | 6.88154E-04 |
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 | 0.201 | likely_benign | 0.2602 | benign | -1.703 | Destabilizing | 0.013 | N | 0.305 | neutral | D | 0.52861373 | None | None | N |
| V/C | 0.7452 | likely_pathogenic | 0.8104 | pathogenic | -1.386 | Destabilizing | 0.997 | D | 0.548 | neutral | None | None | None | None | N |
| V/D | 0.3614 | ambiguous | 0.4249 | ambiguous | -1.616 | Destabilizing | 0.941 | D | 0.555 | neutral | None | None | None | None | N |
| V/E | 0.2679 | likely_benign | 0.2926 | benign | -1.561 | Destabilizing | 0.007 | N | 0.479 | neutral | N | 0.441898822 | None | None | N |
| V/F | 0.1418 | likely_benign | 0.1724 | benign | -1.187 | Destabilizing | 0.994 | D | 0.571 | neutral | None | None | None | None | N |
| V/G | 0.2822 | likely_benign | 0.3763 | ambiguous | -2.082 | Highly Destabilizing | 0.942 | D | 0.555 | neutral | N | 0.515117345 | None | None | N |
| V/H | 0.4241 | ambiguous | 0.4887 | ambiguous | -1.603 | Destabilizing | 0.997 | D | 0.603 | neutral | None | None | None | None | N |
| V/I | 0.0721 | likely_benign | 0.0768 | benign | -0.734 | Destabilizing | 0.602 | D | 0.539 | neutral | N | 0.475125961 | None | None | N |
| V/K | 0.3522 | ambiguous | 0.386 | ambiguous | -1.403 | Destabilizing | 0.131 | N | 0.477 | neutral | None | None | None | None | N |
| V/L | 0.1489 | likely_benign | 0.1842 | benign | -0.734 | Destabilizing | 0.385 | N | 0.555 | neutral | N | 0.484534879 | None | None | N |
| V/M | 0.1303 | likely_benign | 0.1527 | benign | -0.708 | Destabilizing | 0.997 | D | 0.565 | neutral | None | None | None | None | N |
| V/N | 0.2378 | likely_benign | 0.3011 | benign | -1.318 | Destabilizing | 0.772 | D | 0.601 | neutral | None | None | None | None | N |
| V/P | 0.9413 | likely_pathogenic | 0.9722 | pathogenic | -1.024 | Destabilizing | 0.922 | D | 0.593 | neutral | None | None | None | None | N |
| V/Q | 0.2576 | likely_benign | 0.294 | benign | -1.421 | Destabilizing | 0.888 | D | 0.541 | neutral | None | None | None | None | N |
| V/R | 0.3052 | likely_benign | 0.3408 | ambiguous | -0.972 | Destabilizing | 0.923 | D | 0.547 | neutral | None | None | None | None | N |
| V/S | 0.1984 | likely_benign | 0.2549 | benign | -1.932 | Destabilizing | 0.727 | D | 0.536 | neutral | None | None | None | None | N |
| V/T | 0.1617 | likely_benign | 0.1848 | benign | -1.758 | Destabilizing | 0.839 | D | 0.537 | neutral | None | None | None | None | N |
| V/W | 0.7322 | likely_pathogenic | 0.7947 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| V/Y | 0.4403 | ambiguous | 0.5016 | ambiguous | -1.117 | Destabilizing | 0.998 | D | 0.569 | 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.