Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30793 | 92602;92603;92604 | chr2:178549249;178549248;178549247 | chr2:179413976;179413975;179413974 |
| N2AB | 29152 | 87679;87680;87681 | chr2:178549249;178549248;178549247 | chr2:179413976;179413975;179413974 |
| N2A | 28225 | 84898;84899;84900 | chr2:178549249;178549248;178549247 | chr2:179413976;179413975;179413974 |
| N2B | 21728 | 65407;65408;65409 | chr2:178549249;178549248;178549247 | chr2:179413976;179413975;179413974 |
| Novex-1 | 21853 | 65782;65783;65784 | chr2:178549249;178549248;178549247 | chr2:179413976;179413975;179413974 |
| Novex-2 | 21920 | 65983;65984;65985 | chr2:178549249;178549248;178549247 | chr2:179413976;179413975;179413974 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | D | 0.645 | 0.544 | 0.646007317467 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/C | 0.9868 | likely_pathogenic | 0.9871 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.571002456 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.531 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.295 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/G | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -2.915 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/H | 0.9954 | likely_pathogenic | 0.9947 | pathogenic | -2.281 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/I | 0.9735 | likely_pathogenic | 0.967 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.521975474 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.267 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/L | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -1.027 | Destabilizing | 0.999 | D | 0.645 | neutral | D | 0.523242922 | None | None | N |
| F/M | 0.9858 | likely_pathogenic | 0.9862 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| F/N | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -3.037 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.767 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/R | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/S | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.333 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.55964615 | None | None | N |
| F/T | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.971 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/V | 0.9801 | likely_pathogenic | 0.9764 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.500562629 | None | None | N |
| F/W | 0.9294 | likely_pathogenic | 0.9296 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/Y | 0.5041 | ambiguous | 0.4987 | ambiguous | -1.046 | Destabilizing | 0.999 | D | 0.567 | neutral | N | 0.499457582 | 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.