Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8919 | 26980;26981;26982 | chr2:178713903;178713902;178713901 | chr2:179578630;179578629;179578628 |
| N2AB | 8602 | 26029;26030;26031 | chr2:178713903;178713902;178713901 | chr2:179578630;179578629;179578628 |
| N2A | 7675 | 23248;23249;23250 | chr2:178713903;178713902;178713901 | chr2:179578630;179578629;179578628 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs1560596105  |
None | 1.0 | D | 0.891 | 0.873 | 0.946330719992 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/D | rs1560596105 |
None | 1.0 | D | 0.891 | 0.873 | 0.946330719992 | gnomAD-4.0.0 | 1.59417E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86407E-06 | 0 | 0 |
| V/I | rs774905023 |
-0.874 | 0.997 | N | 0.746 | 0.416 | 0.707940124399 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 8.92E-06 | 0 |
| V/I | rs774905023 |
-0.874 | 0.997 | N | 0.746 | 0.416 | 0.707940124399 | gnomAD-4.0.0 | 8.90201E-06 | None | None | None | None | N | None | 0 | 4.48149E-05 | None | 0 | 0 | None | 0 | 0 | 8.10059E-06 | 2.32396E-05 | 0 |
| V/L | None | None | 0.997 | D | 0.781 | 0.499 | 0.694160407388 | gnomAD-4.0.0 | 6.8477E-07 | None | None | None | None | N | None | 2.99419E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5695 | likely_pathogenic | 0.7555 | pathogenic | -1.671 | Destabilizing | 0.999 | D | 0.772 | deleterious | D | 0.603195468 | None | None | N |
| V/C | 0.9441 | likely_pathogenic | 0.9633 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/D | 0.9582 | likely_pathogenic | 0.9768 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.629338993 | None | None | N |
| V/E | 0.9189 | likely_pathogenic | 0.9533 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/F | 0.6677 | likely_pathogenic | 0.7331 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.612714219 | None | None | N |
| V/G | 0.702 | likely_pathogenic | 0.8042 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.629338993 | None | None | N |
| V/H | 0.9777 | likely_pathogenic | 0.9874 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/I | 0.1046 | likely_benign | 0.1177 | benign | -0.893 | Destabilizing | 0.997 | D | 0.746 | deleterious | N | 0.504927853 | None | None | N |
| V/K | 0.9566 | likely_pathogenic | 0.9735 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/L | 0.5958 | likely_pathogenic | 0.6945 | pathogenic | -0.893 | Destabilizing | 0.997 | D | 0.781 | deleterious | D | 0.567281386 | None | None | N |
| V/M | 0.5705 | likely_pathogenic | 0.687 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/N | 0.8984 | likely_pathogenic | 0.9428 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/P | 0.8815 | likely_pathogenic | 0.9462 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/Q | 0.9408 | likely_pathogenic | 0.9638 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/R | 0.94 | likely_pathogenic | 0.959 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/S | 0.7824 | likely_pathogenic | 0.8838 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/T | 0.6901 | likely_pathogenic | 0.8246 | pathogenic | -1.631 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| V/W | 0.9894 | likely_pathogenic | 0.9943 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Y | 0.946 | likely_pathogenic | 0.9613 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.911 | 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.