Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31890 | 95893;95894;95895 | chr2:178545442;178545441;178545440 | chr2:179410169;179410168;179410167 |
| N2AB | 30249 | 90970;90971;90972 | chr2:178545442;178545441;178545440 | chr2:179410169;179410168;179410167 |
| N2A | 29322 | 88189;88190;88191 | chr2:178545442;178545441;178545440 | chr2:179410169;179410168;179410167 |
| N2B | 22825 | 68698;68699;68700 | chr2:178545442;178545441;178545440 | chr2:179410169;179410168;179410167 |
| Novex-1 | 22950 | 69073;69074;69075 | chr2:178545442;178545441;178545440 | chr2:179410169;179410168;179410167 |
| Novex-2 | 23017 | 69274;69275;69276 | chr2:178545442;178545441;178545440 | chr2:179410169;179410168;179410167 |
| 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/V | rs763832653  |
-0.067 | 1.0 | D | 0.898 | 0.713 | 0.870920429395 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.67205E-04 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs763832653 |
-0.067 | 1.0 | D | 0.898 | 0.713 | 0.870920429395 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs763832653 |
-0.067 | 1.0 | D | 0.898 | 0.713 | 0.870920429395 | gnomAD-4.0.0 | 2.57948E-06 | None | None | None | None | I | None | 1.69417E-05 | 0 | None | 0 | 2.43108E-05 | None | 0 | 0 | 0 | 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 | 0.9018 | likely_pathogenic | 0.8683 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.557852633 | None | None | I |
| G/C | 0.9716 | likely_pathogenic | 0.9562 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.570476386 | None | None | I |
| G/D | 0.972 | likely_pathogenic | 0.9525 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.543471361 | None | None | I |
| G/E | 0.9812 | likely_pathogenic | 0.9686 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/F | 0.9956 | likely_pathogenic | 0.9934 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| G/H | 0.9941 | likely_pathogenic | 0.9906 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/I | 0.9959 | likely_pathogenic | 0.9933 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/K | 0.9886 | likely_pathogenic | 0.9836 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/L | 0.9918 | likely_pathogenic | 0.9882 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/M | 0.9947 | likely_pathogenic | 0.9921 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/N | 0.9783 | likely_pathogenic | 0.9666 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/Q | 0.9809 | likely_pathogenic | 0.9701 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | I |
| G/R | 0.9736 | likely_pathogenic | 0.9613 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.569715917 | None | None | I |
| G/S | 0.8186 | likely_pathogenic | 0.7652 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.550851193 | None | None | I |
| G/T | 0.973 | likely_pathogenic | 0.9623 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/V | 0.9894 | likely_pathogenic | 0.9839 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.569208938 | None | None | I |
| G/W | 0.9913 | likely_pathogenic | 0.9858 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/Y | 0.9933 | likely_pathogenic | 0.9892 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
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.