Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18255 | 54988;54989;54990 | chr2:178603924;178603923;178603922 | chr2:179468651;179468650;179468649 |
| N2AB | 16614 | 50065;50066;50067 | chr2:178603924;178603923;178603922 | chr2:179468651;179468650;179468649 |
| N2A | 15687 | 47284;47285;47286 | chr2:178603924;178603923;178603922 | chr2:179468651;179468650;179468649 |
| N2B | 9190 | 27793;27794;27795 | chr2:178603924;178603923;178603922 | chr2:179468651;179468650;179468649 |
| Novex-1 | 9315 | 28168;28169;28170 | chr2:178603924;178603923;178603922 | chr2:179468651;179468650;179468649 |
| Novex-2 | 9382 | 28369;28370;28371 | chr2:178603924;178603923;178603922 | chr2:179468651;179468650;179468649 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.969 | D | 0.699 | 0.585 | 0.442567846599 | gnomAD-4.0.0 | 6.85044E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00398E-07 | 0 | 0 |
| G/S | rs762872466  |
-1.332 | 0.996 | N | 0.842 | 0.457 | 0.321108458156 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/S | rs762872466 |
-1.332 | 0.996 | N | 0.842 | 0.457 | 0.321108458156 | gnomAD-4.0.0 | 1.59559E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86733E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8624 | likely_pathogenic | 0.8443 | pathogenic | -0.824 | Destabilizing | 0.969 | D | 0.699 | prob.neutral | D | 0.539860055 | None | None | N |
| G/C | 0.9714 | likely_pathogenic | 0.9701 | pathogenic | -0.88 | Destabilizing | 0.513 | D | 0.816 | deleterious | D | 0.530278176 | None | None | N |
| G/D | 0.9957 | likely_pathogenic | 0.9954 | pathogenic | -1.863 | Destabilizing | 0.999 | D | 0.869 | deleterious | D | 0.540620524 | None | None | N |
| G/E | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -1.858 | Destabilizing | 0.999 | D | 0.914 | deleterious | None | None | None | None | N |
| G/F | 0.9971 | likely_pathogenic | 0.9969 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| G/H | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/I | 0.9957 | likely_pathogenic | 0.9955 | pathogenic | -0.263 | Destabilizing | 0.997 | D | 0.909 | deleterious | None | None | None | None | N |
| G/K | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.546 | Destabilizing | 0.998 | D | 0.91 | deleterious | None | None | None | None | N |
| G/L | 0.993 | likely_pathogenic | 0.992 | pathogenic | -0.263 | Destabilizing | 0.993 | D | 0.908 | deleterious | None | None | None | None | N |
| G/M | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/N | 0.9948 | likely_pathogenic | 0.9947 | pathogenic | -1.296 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| G/P | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.41 | Destabilizing | 0.999 | D | 0.922 | deleterious | None | None | None | None | N |
| G/Q | 0.9969 | likely_pathogenic | 0.9967 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| G/R | 0.9969 | likely_pathogenic | 0.9967 | pathogenic | -1.268 | Destabilizing | 0.999 | D | 0.917 | deleterious | N | 0.518161402 | None | None | N |
| G/S | 0.5984 | likely_pathogenic | 0.5516 | ambiguous | -1.493 | Destabilizing | 0.996 | D | 0.842 | deleterious | N | 0.477291114 | None | None | N |
| G/T | 0.9713 | likely_pathogenic | 0.9656 | pathogenic | -1.423 | Destabilizing | 0.997 | D | 0.915 | deleterious | None | None | None | None | N |
| G/V | 0.993 | likely_pathogenic | 0.992 | pathogenic | -0.41 | Destabilizing | 0.991 | D | 0.909 | deleterious | D | 0.541127503 | None | None | N |
| G/W | 0.9956 | likely_pathogenic | 0.9957 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/Y | 0.9971 | likely_pathogenic | 0.997 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.922 | 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.