Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31778 | 95557;95558;95559 | chr2:178545904;178545903;178545902 | chr2:179410631;179410630;179410629 |
| N2AB | 30137 | 90634;90635;90636 | chr2:178545904;178545903;178545902 | chr2:179410631;179410630;179410629 |
| N2A | 29210 | 87853;87854;87855 | chr2:178545904;178545903;178545902 | chr2:179410631;179410630;179410629 |
| N2B | 22713 | 68362;68363;68364 | chr2:178545904;178545903;178545902 | chr2:179410631;179410630;179410629 |
| Novex-1 | 22838 | 68737;68738;68739 | chr2:178545904;178545903;178545902 | chr2:179410631;179410630;179410629 |
| Novex-2 | 22905 | 68938;68939;68940 | chr2:178545904;178545903;178545902 | chr2:179410631;179410630;179410629 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs540043466  |
None | 1.0 | D | 0.833 | 0.872 | 0.78946127699 | 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 |
| Y/N | rs540043466 |
None | 1.0 | D | 0.884 | 0.907 | 0.923049238605 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/N | rs540043466 |
None | 1.0 | D | 0.884 | 0.907 | 0.923049238605 | gnomAD-4.0.0 | 6.57324E-06 | None | None | None | None | N | None | 2.41336E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -3.475 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/C | 0.9856 | likely_pathogenic | 0.9852 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.698938336 | None | None | N |
| Y/D | 0.9952 | likely_pathogenic | 0.9948 | pathogenic | -3.603 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.698938336 | None | None | N |
| Y/E | 0.999 | likely_pathogenic | 0.999 | pathogenic | -3.421 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/F | 0.68 | likely_pathogenic | 0.679 | pathogenic | -1.289 | Destabilizing | 0.999 | D | 0.753 | deleterious | D | 0.655564625 | None | None | N |
| Y/G | 0.9903 | likely_pathogenic | 0.99 | pathogenic | -3.867 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| Y/H | 0.9943 | likely_pathogenic | 0.9946 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.698938336 | None | None | N |
| Y/I | 0.984 | likely_pathogenic | 0.9809 | pathogenic | -2.164 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| Y/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.371 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/L | 0.9689 | likely_pathogenic | 0.9634 | pathogenic | -2.164 | Highly Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| Y/M | 0.99 | likely_pathogenic | 0.989 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/N | 0.9725 | likely_pathogenic | 0.97 | pathogenic | -3.04 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.698736531 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.616 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| Y/Q | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.874 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/R | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| Y/S | 0.9931 | likely_pathogenic | 0.9932 | pathogenic | -3.419 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.682918975 | None | None | N |
| Y/T | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -3.128 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/V | 0.969 | likely_pathogenic | 0.9658 | pathogenic | -2.616 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/W | 0.969 | likely_pathogenic | 0.9701 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.817 | 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.