Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14974 | 45145;45146;45147 | chr2:178622002;178622001;178622000 | chr2:179486729;179486728;179486727 |
| N2AB | 13333 | 40222;40223;40224 | chr2:178622002;178622001;178622000 | chr2:179486729;179486728;179486727 |
| N2A | 12406 | 37441;37442;37443 | chr2:178622002;178622001;178622000 | chr2:179486729;179486728;179486727 |
| N2B | 5909 | 17950;17951;17952 | chr2:178622002;178622001;178622000 | chr2:179486729;179486728;179486727 |
| Novex-1 | 6034 | 18325;18326;18327 | chr2:178622002;178622001;178622000 | chr2:179486729;179486728;179486727 |
| Novex-2 | 6101 | 18526;18527;18528 | chr2:178622002;178622001;178622000 | chr2:179486729;179486728;179486727 |
| 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 | None | None | 1.0 | D | 0.863 | 0.914 | 0.952822815892 | gnomAD-4.0.0 | 1.2011E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31336E-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 | 0.994 | likely_pathogenic | 0.9948 | pathogenic | -2.872 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/C | 0.9968 | likely_pathogenic | 0.9975 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.742147 | None | None | N |
| W/D | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -3.415 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/E | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -3.29 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/F | 0.6353 | likely_pathogenic | 0.648 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/G | 0.979 | likely_pathogenic | 0.9778 | pathogenic | -3.117 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.742185176 | None | None | N |
| W/H | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/I | 0.9539 | likely_pathogenic | 0.965 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.445 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/L | 0.9291 | likely_pathogenic | 0.944 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.742185176 | None | None | N |
| W/M | 0.9862 | likely_pathogenic | 0.9885 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| W/N | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -3.209 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/P | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.988 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.742147 | None | None | N |
| W/S | 0.9947 | likely_pathogenic | 0.9949 | pathogenic | -3.274 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.742147 | None | None | N |
| W/T | 0.9938 | likely_pathogenic | 0.9946 | pathogenic | -3.073 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/V | 0.9689 | likely_pathogenic | 0.9743 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/Y | 0.8895 | likely_pathogenic | 0.9035 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.788 | 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.