Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24290 | 73093;73094;73095 | chr2:178573264;178573263;178573262 | chr2:179437991;179437990;179437989 |
| N2AB | 22649 | 68170;68171;68172 | chr2:178573264;178573263;178573262 | chr2:179437991;179437990;179437989 |
| N2A | 21722 | 65389;65390;65391 | chr2:178573264;178573263;178573262 | chr2:179437991;179437990;179437989 |
| N2B | 15225 | 45898;45899;45900 | chr2:178573264;178573263;178573262 | chr2:179437991;179437990;179437989 |
| Novex-1 | 15350 | 46273;46274;46275 | chr2:178573264;178573263;178573262 | chr2:179437991;179437990;179437989 |
| Novex-2 | 15417 | 46474;46475;46476 | chr2:178573264;178573263;178573262 | chr2:179437991;179437990;179437989 |
| 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/E | rs1304384759  |
None | 0.997 | N | 0.849 | 0.432 | 0.691975608336 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1304384759 |
None | 0.997 | N | 0.849 | 0.432 | 0.691975608336 | gnomAD-4.0.0 | 3.88335E-06 | None | None | None | None | N | None | 5.09165E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1024961148 |
-0.311 | 0.999 | N | 0.892 | 0.449 | 0.791082755476 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.06E-06 | 0 |
| G/R | rs1024961148 |
-0.311 | 0.999 | N | 0.892 | 0.449 | 0.791082755476 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.3333 | likely_benign | 0.2768 | benign | -0.749 | Destabilizing | 0.995 | D | 0.673 | neutral | N | 0.494484059 | None | None | N |
| G/C | 0.3726 | ambiguous | 0.3115 | benign | -0.727 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/D | 0.2554 | likely_benign | 0.1971 | benign | -1.672 | Destabilizing | 0.669 | D | 0.587 | neutral | None | None | None | None | N |
| G/E | 0.4133 | ambiguous | 0.3268 | benign | -1.806 | Destabilizing | 0.997 | D | 0.849 | deleterious | N | 0.509461215 | None | None | N |
| G/F | 0.7275 | likely_pathogenic | 0.6538 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/H | 0.5471 | ambiguous | 0.4659 | ambiguous | -1.255 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/I | 0.7162 | likely_pathogenic | 0.6356 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/K | 0.7078 | likely_pathogenic | 0.6241 | pathogenic | -1.41 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| G/L | 0.678 | likely_pathogenic | 0.5998 | pathogenic | -0.643 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| G/M | 0.6754 | likely_pathogenic | 0.6013 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/N | 0.2255 | likely_benign | 0.184 | benign | -0.916 | Destabilizing | 0.998 | D | 0.822 | deleterious | None | None | None | None | N |
| G/P | 0.9794 | likely_pathogenic | 0.9712 | pathogenic | -0.643 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.5331 | ambiguous | 0.4487 | ambiguous | -1.251 | Destabilizing | 0.999 | D | 0.891 | deleterious | None | None | None | None | N |
| G/R | 0.6363 | likely_pathogenic | 0.5512 | ambiguous | -0.86 | Destabilizing | 0.999 | D | 0.892 | deleterious | N | 0.515817545 | None | None | N |
| G/S | 0.1695 | likely_benign | 0.1402 | benign | -0.976 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| G/T | 0.3646 | ambiguous | 0.3088 | benign | -1.072 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| G/V | 0.6071 | likely_pathogenic | 0.5181 | ambiguous | -0.643 | Destabilizing | 0.999 | D | 0.875 | deleterious | D | 0.527934319 | None | None | N |
| G/W | 0.6254 | likely_pathogenic | 0.5524 | ambiguous | -1.577 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Y | 0.5295 | ambiguous | 0.4443 | ambiguous | -1.262 | Destabilizing | 1.0 | D | 0.865 | 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.