Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23873 | 71842;71843;71844 | chr2:178574515;178574514;178574513 | chr2:179439242;179439241;179439240 |
| N2AB | 22232 | 66919;66920;66921 | chr2:178574515;178574514;178574513 | chr2:179439242;179439241;179439240 |
| N2A | 21305 | 64138;64139;64140 | chr2:178574515;178574514;178574513 | chr2:179439242;179439241;179439240 |
| N2B | 14808 | 44647;44648;44649 | chr2:178574515;178574514;178574513 | chr2:179439242;179439241;179439240 |
| Novex-1 | 14933 | 45022;45023;45024 | chr2:178574515;178574514;178574513 | chr2:179439242;179439241;179439240 |
| Novex-2 | 15000 | 45223;45224;45225 | chr2:178574515;178574514;178574513 | chr2:179439242;179439241;179439240 |
| 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 | None | None | 1.0 | D | 0.671 | 0.596 | 0.776889509868 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85936E-06 | 0 | 0 |
| W/R | rs748571909  |
-1.201 | 1.0 | D | 0.723 | 0.693 | 0.75040067796 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs748571909 |
-1.201 | 1.0 | D | 0.723 | 0.693 | 0.75040067796 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99578E-07 | 1.15953E-05 | 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 | 0.9973 | likely_pathogenic | 0.9944 | pathogenic | -3.09 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/C | 0.9984 | likely_pathogenic | 0.9964 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.555938577 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/E | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/F | 0.764 | likely_pathogenic | 0.7188 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| W/G | 0.9875 | likely_pathogenic | 0.9735 | pathogenic | -3.286 | Highly Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.543821803 | None | None | N |
| W/H | 0.9942 | likely_pathogenic | 0.9909 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| W/I | 0.9948 | likely_pathogenic | 0.9912 | pathogenic | -2.37 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/L | 0.9722 | likely_pathogenic | 0.9578 | pathogenic | -2.37 | Highly Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.523689632 | None | None | N |
| W/M | 0.9963 | likely_pathogenic | 0.9931 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| W/N | 0.9989 | likely_pathogenic | 0.998 | pathogenic | -2.013 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/P | 0.9961 | likely_pathogenic | 0.9941 | pathogenic | -2.628 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9987 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9979 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.543568314 | None | None | N |
| W/S | 0.9932 | likely_pathogenic | 0.9859 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.531705029 | None | None | N |
| W/T | 0.9972 | likely_pathogenic | 0.9943 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/V | 0.9951 | likely_pathogenic | 0.9911 | pathogenic | -2.628 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9046 | likely_pathogenic | 0.8847 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.58 | 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.