Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15152 | 45679;45680;45681 | chr2:178621264;178621263;178621262 | chr2:179485991;179485990;179485989 |
| N2AB | 13511 | 40756;40757;40758 | chr2:178621264;178621263;178621262 | chr2:179485991;179485990;179485989 |
| N2A | 12584 | 37975;37976;37977 | chr2:178621264;178621263;178621262 | chr2:179485991;179485990;179485989 |
| N2B | 6087 | 18484;18485;18486 | chr2:178621264;178621263;178621262 | chr2:179485991;179485990;179485989 |
| Novex-1 | 6212 | 18859;18860;18861 | chr2:178621264;178621263;178621262 | chr2:179485991;179485990;179485989 |
| Novex-2 | 6279 | 19060;19061;19062 | chr2:178621264;178621263;178621262 | chr2:179485991;179485990;179485989 |
| 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 | rs745384075  |
-2.227 | 1.0 | D | 0.839 | 0.919 | 0.945276877397 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| W/R | rs745384075 |
-2.227 | 1.0 | D | 0.839 | 0.919 | 0.945276877397 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/R | rs745384075 |
-2.227 | 1.0 | D | 0.839 | 0.919 | 0.945276877397 | gnomAD-4.0.0 | 1.11655E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44179E-05 | 0 | 1.60369E-05 |
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 | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -3.078 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/C | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.751984579 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.685 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.566 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| W/F | 0.7474 | likely_pathogenic | 0.7177 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/G | 0.9915 | likely_pathogenic | 0.9913 | pathogenic | -3.317 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.752031035 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.481 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/I | 0.9862 | likely_pathogenic | 0.9824 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/L | 0.9678 | likely_pathogenic | 0.9612 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.724440426 | None | None | N |
| W/M | 0.9932 | likely_pathogenic | 0.9918 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.616 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.393 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.67 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.751984579 | None | None | N |
| W/S | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -3.667 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.751984579 | None | None | N |
| W/T | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -3.473 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| W/V | 0.9912 | likely_pathogenic | 0.9893 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/Y | 0.9582 | likely_pathogenic | 0.9516 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.776 | 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.