Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31930 | 96013;96014;96015 | chr2:178544441;178544440;178544439 | chr2:179409168;179409167;179409166 |
| N2AB | 30289 | 91090;91091;91092 | chr2:178544441;178544440;178544439 | chr2:179409168;179409167;179409166 |
| N2A | 29362 | 88309;88310;88311 | chr2:178544441;178544440;178544439 | chr2:179409168;179409167;179409166 |
| N2B | 22865 | 68818;68819;68820 | chr2:178544441;178544440;178544439 | chr2:179409168;179409167;179409166 |
| Novex-1 | 22990 | 69193;69194;69195 | chr2:178544441;178544440;178544439 | chr2:179409168;179409167;179409166 |
| Novex-2 | 23057 | 69394;69395;69396 | chr2:178544441;178544440;178544439 | chr2:179409168;179409167;179409166 |
| 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/C | None | None | 1.0 | D | 0.865 | 0.644 | 0.895514612685 | gnomAD-4.0.0 | 1.59159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 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 | 0.9967 | likely_pathogenic | 0.9936 | pathogenic | -3.866 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| W/C | 0.9978 | likely_pathogenic | 0.9962 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.665792382 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.964 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.846 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/F | 0.6622 | likely_pathogenic | 0.6456 | pathogenic | -2.593 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/G | 0.9881 | likely_pathogenic | 0.9816 | pathogenic | -4.096 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.665792382 | None | None | N |
| W/H | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -3.116 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/I | 0.9919 | likely_pathogenic | 0.9871 | pathogenic | -2.945 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.935 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/L | 0.9754 | likely_pathogenic | 0.9585 | pathogenic | -2.945 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.632744639 | None | None | N |
| W/M | 0.9937 | likely_pathogenic | 0.9901 | pathogenic | -2.314 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.583 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.286 | Highly Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.454 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.547 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.665792382 | None | None | N |
| W/S | 0.9957 | likely_pathogenic | 0.9927 | pathogenic | -3.739 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.665792382 | None | None | N |
| W/T | 0.9979 | likely_pathogenic | 0.9963 | pathogenic | -3.547 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/V | 0.9909 | likely_pathogenic | 0.9835 | pathogenic | -3.286 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/Y | 0.9531 | likely_pathogenic | 0.9489 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.854 | 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.