Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27647 | 83164;83165;83166 | chr2:178563193;178563192;178563191 | chr2:179427920;179427919;179427918 |
| N2AB | 26006 | 78241;78242;78243 | chr2:178563193;178563192;178563191 | chr2:179427920;179427919;179427918 |
| N2A | 25079 | 75460;75461;75462 | chr2:178563193;178563192;178563191 | chr2:179427920;179427919;179427918 |
| N2B | 18582 | 55969;55970;55971 | chr2:178563193;178563192;178563191 | chr2:179427920;179427919;179427918 |
| Novex-1 | 18707 | 56344;56345;56346 | chr2:178563193;178563192;178563191 | chr2:179427920;179427919;179427918 |
| Novex-2 | 18774 | 56545;56546;56547 | chr2:178563193;178563192;178563191 | chr2:179427920;179427919;179427918 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs758578228  |
-1.399 | 1.0 | N | 0.869 | 0.468 | 0.656646541394 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/Y | rs758578228 |
-1.399 | 1.0 | N | 0.869 | 0.468 | 0.656646541394 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.3959 | ambiguous | 0.409 | ambiguous | -1.639 | Destabilizing | 0.998 | D | 0.628 | neutral | None | None | None | None | N |
| C/D | 0.8867 | likely_pathogenic | 0.8878 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| C/E | 0.8876 | likely_pathogenic | 0.9029 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| C/F | 0.2267 | likely_benign | 0.2238 | benign | -1.0 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.474920026 | None | None | N |
| C/G | 0.3059 | likely_benign | 0.2904 | benign | -1.961 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.473063851 | None | None | N |
| C/H | 0.4803 | ambiguous | 0.4985 | ambiguous | -2.246 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| C/I | 0.6221 | likely_pathogenic | 0.6459 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| C/K | 0.7702 | likely_pathogenic | 0.7996 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| C/L | 0.5069 | ambiguous | 0.5379 | ambiguous | -0.775 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| C/M | 0.5966 | likely_pathogenic | 0.6322 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| C/N | 0.6332 | likely_pathogenic | 0.6543 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| C/P | 0.9971 | likely_pathogenic | 0.9967 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| C/Q | 0.5683 | likely_pathogenic | 0.6043 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| C/R | 0.3667 | ambiguous | 0.3853 | ambiguous | -1.797 | Destabilizing | 1.0 | D | 0.884 | deleterious | N | 0.392744146 | None | None | N |
| C/S | 0.2378 | likely_benign | 0.2454 | benign | -2.227 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.415853079 | None | None | N |
| C/T | 0.4261 | ambiguous | 0.4496 | ambiguous | -1.858 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| C/V | 0.5275 | ambiguous | 0.5495 | ambiguous | -1.041 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| C/W | 0.6085 | likely_pathogenic | 0.6083 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.511976904 | None | None | N |
| C/Y | 0.3616 | ambiguous | 0.369 | ambiguous | -1.244 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.452677884 | 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.