Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23160 | 69703;69704;69705 | chr2:178576766;178576765;178576764 | chr2:179441493;179441492;179441491 |
| N2AB | 21519 | 64780;64781;64782 | chr2:178576766;178576765;178576764 | chr2:179441493;179441492;179441491 |
| N2A | 20592 | 61999;62000;62001 | chr2:178576766;178576765;178576764 | chr2:179441493;179441492;179441491 |
| N2B | 14095 | 42508;42509;42510 | chr2:178576766;178576765;178576764 | chr2:179441493;179441492;179441491 |
| Novex-1 | 14220 | 42883;42884;42885 | chr2:178576766;178576765;178576764 | chr2:179441493;179441492;179441491 |
| Novex-2 | 14287 | 43084;43085;43086 | chr2:178576766;178576765;178576764 | chr2:179441493;179441492;179441491 |
| 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/C | rs1428157842  |
-1.923 | 1.0 | D | 0.879 | 0.801 | 0.833144392332 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs1428157842 |
-1.923 | 1.0 | D | 0.879 | 0.801 | 0.833144392332 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs1428157842 |
-1.923 | 1.0 | D | 0.879 | 0.801 | 0.833144392332 | gnomAD-4.0.0 | 6.57748E-06 | None | None | None | None | N | None | 2.41511E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.923 | 0.865 | 0.911059217484 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -3.712 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/C | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.67198226 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -4.039 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.939 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/F | 0.6908 | likely_pathogenic | 0.7299 | pathogenic | -2.486 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/G | 0.9851 | likely_pathogenic | 0.9857 | pathogenic | -3.926 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.67198226 | None | None | N |
| W/H | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -2.782 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/I | 0.9961 | likely_pathogenic | 0.9962 | pathogenic | -2.856 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.135 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/L | 0.9878 | likely_pathogenic | 0.9888 | pathogenic | -2.856 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.645233323 | None | None | N |
| W/M | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.826 | Highly Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.173 | Highly Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.711 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.67198226 | None | None | N |
| W/S | 0.9959 | likely_pathogenic | 0.996 | pathogenic | -3.928 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.67198226 | None | None | N |
| W/T | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -3.765 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/V | 0.9949 | likely_pathogenic | 0.9953 | pathogenic | -3.173 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/Y | 0.9569 | likely_pathogenic | 0.9607 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.798 | 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.