Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26334 | 79225;79226;79227 | chr2:178567132;178567131;178567130 | chr2:179431859;179431858;179431857 |
| N2AB | 24693 | 74302;74303;74304 | chr2:178567132;178567131;178567130 | chr2:179431859;179431858;179431857 |
| N2A | 23766 | 71521;71522;71523 | chr2:178567132;178567131;178567130 | chr2:179431859;179431858;179431857 |
| N2B | 17269 | 52030;52031;52032 | chr2:178567132;178567131;178567130 | chr2:179431859;179431858;179431857 |
| Novex-1 | 17394 | 52405;52406;52407 | chr2:178567132;178567131;178567130 | chr2:179431859;179431858;179431857 |
| Novex-2 | 17461 | 52606;52607;52608 | chr2:178567132;178567131;178567130 | chr2:179431859;179431858;179431857 |
| 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 | rs779049537  |
-0.725 | 1.0 | D | 0.753 | 0.676 | 0.670247443365 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| W/R | rs779049537 |
-0.725 | 1.0 | D | 0.753 | 0.676 | 0.670247443365 | gnomAD-4.0.0 | 3.18358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71886E-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 | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -2.974 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.51965807 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/F | 0.8184 | likely_pathogenic | 0.8459 | pathogenic | -1.898 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/G | 0.9925 | likely_pathogenic | 0.9944 | pathogenic | -3.158 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.546623415 | None | None | N |
| W/H | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| W/I | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.315 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| W/L | 0.9922 | likely_pathogenic | 0.9946 | pathogenic | -2.315 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.539279581 | None | None | N |
| W/M | 0.9979 | likely_pathogenic | 0.9986 | pathogenic | -1.742 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| W/N | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| W/P | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.549 | Highly Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.540547028 | None | None | N |
| W/S | 0.9933 | likely_pathogenic | 0.9948 | pathogenic | -2.128 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.556458783 | None | None | N |
| W/T | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -2.024 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/V | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -2.549 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/Y | 0.9381 | likely_pathogenic | 0.9502 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.607 | neutral | 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.