Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21394 | 64405;64406;64407 | chr2:178586721;178586720;178586719 | chr2:179451448;179451447;179451446 |
| N2AB | 19753 | 59482;59483;59484 | chr2:178586721;178586720;178586719 | chr2:179451448;179451447;179451446 |
| N2A | 18826 | 56701;56702;56703 | chr2:178586721;178586720;178586719 | chr2:179451448;179451447;179451446 |
| N2B | 12329 | 37210;37211;37212 | chr2:178586721;178586720;178586719 | chr2:179451448;179451447;179451446 |
| Novex-1 | 12454 | 37585;37586;37587 | chr2:178586721;178586720;178586719 | chr2:179451448;179451447;179451446 |
| Novex-2 | 12521 | 37786;37787;37788 | chr2:178586721;178586720;178586719 | chr2:179451448;179451447;179451446 |
| 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/R | None | None | 1.0 | N | 0.837 | 0.572 | 0.591171394266 | gnomAD-4.0.0 | 1.59279E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86141E-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 | 0.9738 | likely_pathogenic | 0.9623 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.499828614 | None | None | I |
| G/C | 0.9914 | likely_pathogenic | 0.9864 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/D | 0.9971 | likely_pathogenic | 0.9959 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/E | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.51545088 | None | None | I |
| G/F | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/Q | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/R | 0.993 | likely_pathogenic | 0.9904 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.495536199 | None | None | I |
| G/S | 0.9686 | likely_pathogenic | 0.9512 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/T | 0.9953 | likely_pathogenic | 0.9937 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/V | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.512198877 | None | None | I |
| G/W | 0.9959 | likely_pathogenic | 0.9948 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/Y | 0.9984 | likely_pathogenic | 0.9977 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.789 | 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.