Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15762 | 47509;47510;47511 | chr2:178618067;178618066;178618065 | chr2:179482794;179482793;179482792 |
| N2AB | 14121 | 42586;42587;42588 | chr2:178618067;178618066;178618065 | chr2:179482794;179482793;179482792 |
| N2A | 13194 | 39805;39806;39807 | chr2:178618067;178618066;178618065 | chr2:179482794;179482793;179482792 |
| N2B | 6697 | 20314;20315;20316 | chr2:178618067;178618066;178618065 | chr2:179482794;179482793;179482792 |
| Novex-1 | 6822 | 20689;20690;20691 | chr2:178618067;178618066;178618065 | chr2:179482794;179482793;179482792 |
| Novex-2 | 6889 | 20890;20891;20892 | chr2:178618067;178618066;178618065 | chr2:179482794;179482793;179482792 |
| 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/A | None | None | 1.0 | D | 0.819 | 0.663 | 0.563982556371 | gnomAD-4.0.0 | 6.84865E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5355E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1190086474  |
-2.822 | 1.0 | D | 0.866 | 0.745 | 0.607610696475 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| P/S | rs1190086474 |
-2.822 | 1.0 | D | 0.866 | 0.745 | 0.607610696475 | gnomAD-4.0.0 | 7.53351E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89983E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7722 | likely_pathogenic | 0.8023 | pathogenic | -2.592 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.65793608 | None | None | N |
| P/C | 0.9779 | likely_pathogenic | 0.9712 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/D | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -3.472 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/E | 0.9963 | likely_pathogenic | 0.9968 | pathogenic | -3.206 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/F | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| P/G | 0.9874 | likely_pathogenic | 0.9865 | pathogenic | -3.126 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/H | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -2.777 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.811403102 | None | None | N |
| P/I | 0.9441 | likely_pathogenic | 0.9646 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -2.102 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/L | 0.9211 | likely_pathogenic | 0.9258 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.808351909 | None | None | N |
| P/M | 0.989 | likely_pathogenic | 0.9898 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.614 | Highly Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| P/Q | 0.9943 | likely_pathogenic | 0.995 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/R | 0.9923 | likely_pathogenic | 0.9929 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.938 | deleterious | D | 0.810762709 | None | None | N |
| P/S | 0.9756 | likely_pathogenic | 0.979 | pathogenic | -3.135 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.777344781 | None | None | N |
| P/T | 0.9531 | likely_pathogenic | 0.9629 | pathogenic | -2.739 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.810217484 | None | None | N |
| P/V | 0.8385 | likely_pathogenic | 0.8838 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.871 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.936 | 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.