Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20911 | 62956;62957;62958 | chr2:178588994;178588993;178588992 | chr2:179453721;179453720;179453719 |
| N2AB | 19270 | 58033;58034;58035 | chr2:178588994;178588993;178588992 | chr2:179453721;179453720;179453719 |
| N2A | 18343 | 55252;55253;55254 | chr2:178588994;178588993;178588992 | chr2:179453721;179453720;179453719 |
| N2B | 11846 | 35761;35762;35763 | chr2:178588994;178588993;178588992 | chr2:179453721;179453720;179453719 |
| Novex-1 | 11971 | 36136;36137;36138 | chr2:178588994;178588993;178588992 | chr2:179453721;179453720;179453719 |
| Novex-2 | 12038 | 36337;36338;36339 | chr2:178588994;178588993;178588992 | chr2:179453721;179453720;179453719 |
| 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 | None | None | 1.0 | N | 0.719 | 0.646 | 0.793074248023 | 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 |
| W/S | rs1243863753  |
-2.113 | 1.0 | N | 0.718 | 0.526 | 0.865275562327 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| W/S | rs1243863753 |
-2.113 | 1.0 | N | 0.718 | 0.526 | 0.865275562327 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/S | rs1243863753 |
-2.113 | 1.0 | N | 0.718 | 0.526 | 0.865275562327 | gnomAD-4.0.0 | 2.56895E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79191E-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 | 0.9979 | likely_pathogenic | 0.9968 | pathogenic | -2.77 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| W/C | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.515872635 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/F | 0.7865 | likely_pathogenic | 0.7462 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| W/G | 0.9922 | likely_pathogenic | 0.9901 | pathogenic | -2.955 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.519631616 | None | None | N |
| W/H | 0.9972 | likely_pathogenic | 0.9963 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| W/I | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/L | 0.9889 | likely_pathogenic | 0.9863 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.513933624 | None | None | N |
| W/M | 0.9977 | likely_pathogenic | 0.9967 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| W/N | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/P | 0.9978 | likely_pathogenic | 0.9962 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.520138595 | None | None | N |
| W/S | 0.9955 | likely_pathogenic | 0.9942 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.504121028 | None | None | N |
| W/T | 0.9982 | likely_pathogenic | 0.9972 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| W/V | 0.9966 | likely_pathogenic | 0.9952 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9414 | likely_pathogenic | 0.9319 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.566 | 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.