Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31649 | 95170;95171;95172 | chr2:178546386;178546385;178546384 | chr2:179411113;179411112;179411111 |
| N2AB | 30008 | 90247;90248;90249 | chr2:178546386;178546385;178546384 | chr2:179411113;179411112;179411111 |
| N2A | 29081 | 87466;87467;87468 | chr2:178546386;178546385;178546384 | chr2:179411113;179411112;179411111 |
| N2B | 22584 | 67975;67976;67977 | chr2:178546386;178546385;178546384 | chr2:179411113;179411112;179411111 |
| Novex-1 | 22709 | 68350;68351;68352 | chr2:178546386;178546385;178546384 | chr2:179411113;179411112;179411111 |
| Novex-2 | 22776 | 68551;68552;68553 | chr2:178546386;178546385;178546384 | chr2:179411113;179411112;179411111 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.813 | 0.893 | 0.766217489468 | gnomAD-4.0.0 | 6.84214E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9948E-07 | 0 | 0 |
| W/R | rs1697138621  |
None | 1.0 | D | 0.873 | 0.91 | 0.951794544108 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/R | rs1697138621 |
None | 1.0 | D | 0.873 | 0.91 | 0.951794544108 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47029E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -2.887 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/C | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.70097597 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.977 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.842 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/F | 0.6968 | likely_pathogenic | 0.7086 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/G | 0.9957 | likely_pathogenic | 0.9954 | pathogenic | -3.146 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.700774166 | None | None | N |
| W/H | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.143 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/I | 0.9872 | likely_pathogenic | 0.9874 | pathogenic | -1.911 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.414 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/L | 0.9558 | likely_pathogenic | 0.9558 | pathogenic | -1.911 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.68452264 | None | None | N |
| W/M | 0.9953 | likely_pathogenic | 0.9956 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.132 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.895 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.70097597 | None | None | N |
| W/S | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -3.347 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.70097597 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.14 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/V | 0.9927 | likely_pathogenic | 0.9929 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/Y | 0.9666 | likely_pathogenic | 0.9639 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.807 | 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.