Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21287 | 64084;64085;64086 | chr2:178587352;178587351;178587350 | chr2:179452079;179452078;179452077 |
| N2AB | 19646 | 59161;59162;59163 | chr2:178587352;178587351;178587350 | chr2:179452079;179452078;179452077 |
| N2A | 18719 | 56380;56381;56382 | chr2:178587352;178587351;178587350 | chr2:179452079;179452078;179452077 |
| N2B | 12222 | 36889;36890;36891 | chr2:178587352;178587351;178587350 | chr2:179452079;179452078;179452077 |
| Novex-1 | 12347 | 37264;37265;37266 | chr2:178587352;178587351;178587350 | chr2:179452079;179452078;179452077 |
| Novex-2 | 12414 | 37465;37466;37467 | chr2:178587352;178587351;178587350 | chr2:179452079;179452078;179452077 |
| 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 | D | 0.928 | 0.857 | 0.878025301495 | gnomAD-4.0.0 | 1.59661E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86553E-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 | 0.9914 | likely_pathogenic | 0.9939 | pathogenic | -3.393 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/C | 0.996 | likely_pathogenic | 0.9972 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.657355887 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.663 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.543 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/F | 0.5609 | ambiguous | 0.587 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/G | 0.97 | likely_pathogenic | 0.9743 | pathogenic | -3.641 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.657355887 | None | None | N |
| W/H | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -2.616 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/I | 0.9887 | likely_pathogenic | 0.9921 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.685 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/L | 0.9686 | likely_pathogenic | 0.9766 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.656145061 | None | None | N |
| W/M | 0.9926 | likely_pathogenic | 0.9949 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.377 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| W/P | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.785 | Highly Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.22 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/R | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.928 | deleterious | D | 0.657355887 | None | None | N |
| W/S | 0.9906 | likely_pathogenic | 0.9932 | pathogenic | -3.549 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.641336526 | None | None | N |
| W/T | 0.9963 | likely_pathogenic | 0.9974 | pathogenic | -3.353 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/V | 0.9854 | likely_pathogenic | 0.9897 | pathogenic | -2.785 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| W/Y | 0.9288 | likely_pathogenic | 0.9422 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.862 | 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.