Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17068 | 51427;51428;51429 | chr2:178610324;178610323;178610322 | chr2:179475051;179475050;179475049 |
| N2AB | 15427 | 46504;46505;46506 | chr2:178610324;178610323;178610322 | chr2:179475051;179475050;179475049 |
| N2A | 14500 | 43723;43724;43725 | chr2:178610324;178610323;178610322 | chr2:179475051;179475050;179475049 |
| N2B | 8003 | 24232;24233;24234 | chr2:178610324;178610323;178610322 | chr2:179475051;179475050;179475049 |
| Novex-1 | 8128 | 24607;24608;24609 | chr2:178610324;178610323;178610322 | chr2:179475051;179475050;179475049 |
| Novex-2 | 8195 | 24808;24809;24810 | chr2:178610324;178610323;178610322 | chr2:179475051;179475050;179475049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs2056011998  |
None | 1.0 | D | 0.912 | 0.874 | 0.831283644108 | gnomAD-4.0.0 | 1.59329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78133E-05 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | None | None | 1.0 | D | 0.888 | 0.865 | 0.868941280685 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -3.362 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.813736075 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.774 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.655 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/F | 0.7854 | likely_pathogenic | 0.7922 | pathogenic | -2.17 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/G | 0.9956 | likely_pathogenic | 0.9955 | pathogenic | -3.608 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.813736075 | None | None | N |
| W/H | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.657 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/I | 0.995 | likely_pathogenic | 0.9961 | pathogenic | -2.406 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| W/K | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -2.811 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/L | 0.9868 | likely_pathogenic | 0.9892 | pathogenic | -2.406 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.783025858 | None | None | N |
| W/M | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.552 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.757 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.371 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.54 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.813736075 | None | None | N |
| W/S | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.682 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.813736075 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.486 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/V | 0.9945 | likely_pathogenic | 0.9955 | pathogenic | -2.757 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/Y | 0.9718 | likely_pathogenic | 0.9692 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.84 | 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.