Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26180 | 78763;78764;78765 | chr2:178567594;178567593;178567592 | chr2:179432321;179432320;179432319 |
| N2AB | 24539 | 73840;73841;73842 | chr2:178567594;178567593;178567592 | chr2:179432321;179432320;179432319 |
| N2A | 23612 | 71059;71060;71061 | chr2:178567594;178567593;178567592 | chr2:179432321;179432320;179432319 |
| N2B | 17115 | 51568;51569;51570 | chr2:178567594;178567593;178567592 | chr2:179432321;179432320;179432319 |
| Novex-1 | 17240 | 51943;51944;51945 | chr2:178567594;178567593;178567592 | chr2:179432321;179432320;179432319 |
| Novex-2 | 17307 | 52144;52145;52146 | chr2:178567594;178567593;178567592 | chr2:179432321;179432320;179432319 |
| 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 | None | None | 0.465 | N | 0.669 | 0.348 | 0.257292322809 | gnomAD-4.0.0 | 1.59751E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87033E-06 | 0 | 0 |
| G/R | rs774781891  |
-0.128 | 0.995 | N | 0.835 | 0.271 | 0.427713192076 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/R | rs774781891 |
-0.128 | 0.995 | N | 0.835 | 0.271 | 0.427713192076 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs774781891 |
-0.128 | 0.995 | N | 0.835 | 0.271 | 0.427713192076 | gnomAD-4.0.0 | 6.20683E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.29164E-04 | 5.94079E-06 | 0 | 1.6039E-05 |
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 | 0.4609 | ambiguous | 0.5057 | ambiguous | -0.339 | Destabilizing | 0.981 | D | 0.691 | prob.delet. | N | 0.498321668 | None | None | N |
| G/C | 0.6547 | likely_pathogenic | 0.6905 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/D | 0.794 | likely_pathogenic | 0.8192 | pathogenic | -0.161 | Destabilizing | 0.992 | D | 0.735 | deleterious | None | None | None | None | N |
| G/E | 0.7288 | likely_pathogenic | 0.7651 | pathogenic | -0.27 | Destabilizing | 0.465 | N | 0.669 | prob.neutral | N | 0.46332366 | None | None | N |
| G/F | 0.8999 | likely_pathogenic | 0.9061 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/H | 0.9015 | likely_pathogenic | 0.9134 | pathogenic | -0.633 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| G/I | 0.7637 | likely_pathogenic | 0.8176 | pathogenic | -0.224 | Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | N |
| G/K | 0.8436 | likely_pathogenic | 0.8665 | pathogenic | -0.813 | Destabilizing | 0.992 | D | 0.815 | deleterious | None | None | None | None | N |
| G/L | 0.7967 | likely_pathogenic | 0.8227 | pathogenic | -0.224 | Destabilizing | 0.996 | D | 0.825 | deleterious | None | None | None | None | N |
| G/M | 0.859 | likely_pathogenic | 0.8828 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/N | 0.8101 | likely_pathogenic | 0.8354 | pathogenic | -0.53 | Destabilizing | 0.996 | D | 0.767 | deleterious | None | None | None | None | N |
| G/P | 0.9378 | likely_pathogenic | 0.9488 | pathogenic | -0.223 | Destabilizing | 0.998 | D | 0.833 | deleterious | None | None | None | None | N |
| G/Q | 0.7864 | likely_pathogenic | 0.8168 | pathogenic | -0.711 | Destabilizing | 0.992 | D | 0.836 | deleterious | None | None | None | None | N |
| G/R | 0.796 | likely_pathogenic | 0.8204 | pathogenic | -0.494 | Destabilizing | 0.995 | D | 0.835 | deleterious | N | 0.50953874 | None | None | N |
| G/S | 0.3653 | ambiguous | 0.4004 | ambiguous | -0.823 | Destabilizing | 0.996 | D | 0.756 | deleterious | None | None | None | None | N |
| G/T | 0.6422 | likely_pathogenic | 0.698 | pathogenic | -0.837 | Destabilizing | 0.996 | D | 0.835 | deleterious | None | None | None | None | N |
| G/V | 0.678 | likely_pathogenic | 0.7456 | pathogenic | -0.223 | Destabilizing | 0.997 | D | 0.829 | deleterious | N | 0.498975029 | None | None | N |
| G/W | 0.8879 | likely_pathogenic | 0.8965 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.737 | deleterious | None | None | None | None | N |
| G/Y | 0.8724 | likely_pathogenic | 0.8793 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.838 | 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.