Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29166 | 87721;87722;87723 | chr2:178557858;178557857;178557856 | chr2:179422585;179422584;179422583 |
| N2AB | 27525 | 82798;82799;82800 | chr2:178557858;178557857;178557856 | chr2:179422585;179422584;179422583 |
| N2A | 26598 | 80017;80018;80019 | chr2:178557858;178557857;178557856 | chr2:179422585;179422584;179422583 |
| N2B | 20101 | 60526;60527;60528 | chr2:178557858;178557857;178557856 | chr2:179422585;179422584;179422583 |
| Novex-1 | 20226 | 60901;60902;60903 | chr2:178557858;178557857;178557856 | chr2:179422585;179422584;179422583 |
| Novex-2 | 20293 | 61102;61103;61104 | chr2:178557858;178557857;178557856 | chr2:179422585;179422584;179422583 |
| 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/S | rs200263009  |
-0.537 | 1.0 | D | 0.797 | 0.505 | None | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | I | None | 1.29149E-04 | 5.8E-05 | None | 0 | 0 | None | 3.27E-05 | None | 4.64E-05 | 1.77E-05 | 0 |
| G/S | rs200263009 |
-0.537 | 1.0 | D | 0.797 | 0.505 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs200263009 |
-0.537 | 1.0 | D | 0.797 | 0.505 | None | gnomAD-4.0.0 | 1.36327E-05 | None | None | None | None | I | None | 4.00534E-05 | 3.33311E-05 | None | 0 | 0 | None | 1.56309E-05 | 0 | 1.18659E-05 | 2.19578E-05 | 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 | 0.9371 | likely_pathogenic | 0.9469 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.524062161 | None | None | I |
| G/C | 0.9815 | likely_pathogenic | 0.9849 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.533887984 | None | None | I |
| G/D | 0.9962 | likely_pathogenic | 0.9975 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.531099599 | None | None | I |
| G/E | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/F | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/H | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/I | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/K | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/L | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/N | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.9878 | likely_pathogenic | 0.9909 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.512452367 | None | None | I |
| G/S | 0.9308 | likely_pathogenic | 0.9475 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.522794714 | None | None | I |
| G/T | 0.9916 | likely_pathogenic | 0.9928 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9941 | likely_pathogenic | 0.9951 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.52482263 | None | None | I |
| G/W | 0.9948 | likely_pathogenic | 0.996 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.803 | 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.