Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16988 | 51187;51188;51189 | chr2:178611167;178611166;178611165 | chr2:179475894;179475893;179475892 |
| N2AB | 15347 | 46264;46265;46266 | chr2:178611167;178611166;178611165 | chr2:179475894;179475893;179475892 |
| N2A | 14420 | 43483;43484;43485 | chr2:178611167;178611166;178611165 | chr2:179475894;179475893;179475892 |
| N2B | 7923 | 23992;23993;23994 | chr2:178611167;178611166;178611165 | chr2:179475894;179475893;179475892 |
| Novex-1 | 8048 | 24367;24368;24369 | chr2:178611167;178611166;178611165 | chr2:179475894;179475893;179475892 |
| Novex-2 | 8115 | 24568;24569;24570 | chr2:178611167;178611166;178611165 | chr2:179475894;179475893;179475892 |
| 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 | rs1252820791  |
-1.893 | 1.0 | D | 0.782 | 0.908 | 0.921463888424 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 1.70116E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs1252820791 |
-1.893 | 1.0 | D | 0.782 | 0.908 | 0.921463888424 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs1252820791 |
-1.893 | 1.0 | D | 0.782 | 0.908 | 0.921463888424 | gnomAD-4.0.0 | 6.41465E-06 | None | None | None | None | N | None | 0 | 8.48666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | rs1473745606 |
-3.339 | 1.0 | D | 0.839 | 0.882 | 0.965446948986 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| W/S | rs1473745606 |
-3.339 | 1.0 | D | 0.839 | 0.882 | 0.965446948986 | gnomAD-4.0.0 | 1.59337E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88324E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9939 | likely_pathogenic | 0.9906 | pathogenic | -3.118 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/C | 0.9923 | likely_pathogenic | 0.9878 | pathogenic | -2.288 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.735960118 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.4 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.281 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/F | 0.4553 | ambiguous | 0.4274 | ambiguous | -2.005 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| W/G | 0.9868 | likely_pathogenic | 0.9791 | pathogenic | -3.369 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.735992929 | None | None | N |
| W/H | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/I | 0.9243 | likely_pathogenic | 0.9146 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -2.8 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/L | 0.8724 | likely_pathogenic | 0.8417 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.735992929 | None | None | N |
| W/M | 0.9733 | likely_pathogenic | 0.9651 | pathogenic | -1.817 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.532 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.322 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.735960118 | None | None | N |
| W/S | 0.9951 | likely_pathogenic | 0.9925 | pathogenic | -3.72 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.735960118 | None | None | N |
| W/T | 0.9952 | likely_pathogenic | 0.993 | pathogenic | -3.528 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| W/V | 0.9423 | likely_pathogenic | 0.9266 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/Y | 0.8836 | likely_pathogenic | 0.8703 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.796 | 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.