Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16655 | 50188;50189;50190 | chr2:178612562;178612561;178612560 | chr2:179477289;179477288;179477287 |
| N2AB | 15014 | 45265;45266;45267 | chr2:178612562;178612561;178612560 | chr2:179477289;179477288;179477287 |
| N2A | 14087 | 42484;42485;42486 | chr2:178612562;178612561;178612560 | chr2:179477289;179477288;179477287 |
| N2B | 7590 | 22993;22994;22995 | chr2:178612562;178612561;178612560 | chr2:179477289;179477288;179477287 |
| Novex-1 | 7715 | 23368;23369;23370 | chr2:178612562;178612561;178612560 | chr2:179477289;179477288;179477287 |
| Novex-2 | 7782 | 23569;23570;23571 | chr2:178612562;178612561;178612560 | chr2:179477289;179477288;179477287 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | rs794729449  |
None | 1.0 | D | 0.869 | 0.783 | 0.760836599884 | gnomAD-4.0.0 | 6.85852E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5391E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9101 | likely_pathogenic | 0.9292 | pathogenic | -2.326 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.731205791 | None | None | N |
| P/C | 0.992 | likely_pathogenic | 0.9873 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9996 | pathogenic | -3.326 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/E | 0.9971 | likely_pathogenic | 0.999 | pathogenic | -3.052 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| P/G | 0.9942 | likely_pathogenic | 0.9958 | pathogenic | -2.885 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.9991 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/I | 0.9797 | likely_pathogenic | 0.9859 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| P/K | 0.9986 | likely_pathogenic | 0.9994 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/L | 0.9512 | likely_pathogenic | 0.9737 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.786626732 | None | None | N |
| P/M | 0.9947 | likely_pathogenic | 0.9969 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/N | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -2.364 | Highly Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| P/Q | 0.996 | likely_pathogenic | 0.9984 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.789655496 | None | None | N |
| P/R | 0.9954 | likely_pathogenic | 0.9979 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.94 | deleterious | D | 0.822357782 | None | None | N |
| P/S | 0.9888 | likely_pathogenic | 0.9933 | pathogenic | -2.898 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.822939145 | None | None | N |
| P/T | 0.9815 | likely_pathogenic | 0.9884 | pathogenic | -2.476 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.753118772 | None | None | N |
| P/V | 0.9494 | likely_pathogenic | 0.945 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.941 | 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.