Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19205 | 57838;57839;57840 | chr2:178595741;178595740;178595739 | chr2:179460468;179460467;179460466 |
| N2AB | 17564 | 52915;52916;52917 | chr2:178595741;178595740;178595739 | chr2:179460468;179460467;179460466 |
| N2A | 16637 | 50134;50135;50136 | chr2:178595741;178595740;178595739 | chr2:179460468;179460467;179460466 |
| N2B | 10140 | 30643;30644;30645 | chr2:178595741;178595740;178595739 | chr2:179460468;179460467;179460466 |
| Novex-1 | 10265 | 31018;31019;31020 | chr2:178595741;178595740;178595739 | chr2:179460468;179460467;179460466 |
| Novex-2 | 10332 | 31219;31220;31221 | chr2:178595741;178595740;178595739 | chr2:179460468;179460467;179460466 |
| 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 | rs2154188330  |
None | 1.0 | D | 0.905 | 0.871 | 0.928116393999 | gnomAD-4.0.0 | 3.43056E-06 | None | None | None | None | N | None | 2.99204E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70241E-06 | 0 | 1.6603E-05 |
| W/S | rs772966626 |
-3.297 | 1.0 | D | 0.867 | 0.756 | 0.892380040629 | gnomAD-4.0.0 | 6.86173E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17559E-05 | 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 | 0.9908 | likely_pathogenic | 0.9926 | pathogenic | -2.784 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/C | 0.9937 | likely_pathogenic | 0.9951 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.653255491 | None | None | N |
| W/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.578 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.452 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/F | 0.68 | likely_pathogenic | 0.6726 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/G | 0.9642 | likely_pathogenic | 0.9696 | pathogenic | -3.035 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.653255491 | None | None | N |
| W/H | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/I | 0.9861 | likely_pathogenic | 0.9882 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.635 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/L | 0.9714 | likely_pathogenic | 0.9763 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.636227109 | None | None | N |
| W/M | 0.9943 | likely_pathogenic | 0.9954 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/N | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -3.434 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| W/P | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.164 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.653255491 | None | None | N |
| W/S | 0.9872 | likely_pathogenic | 0.9904 | pathogenic | -3.457 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.653255491 | None | None | N |
| W/T | 0.9952 | likely_pathogenic | 0.9962 | pathogenic | -3.245 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/V | 0.9815 | likely_pathogenic | 0.9845 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/Y | 0.9226 | likely_pathogenic | 0.9287 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.802 | 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.