Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31330 | 94213;94214;94215 | chr2:178547638;178547637;178547636 | chr2:179412365;179412364;179412363 |
| N2AB | 29689 | 89290;89291;89292 | chr2:178547638;178547637;178547636 | chr2:179412365;179412364;179412363 |
| N2A | 28762 | 86509;86510;86511 | chr2:178547638;178547637;178547636 | chr2:179412365;179412364;179412363 |
| N2B | 22265 | 67018;67019;67020 | chr2:178547638;178547637;178547636 | chr2:179412365;179412364;179412363 |
| Novex-1 | 22390 | 67393;67394;67395 | chr2:178547638;178547637;178547636 | chr2:179412365;179412364;179412363 |
| Novex-2 | 22457 | 67594;67595;67596 | chr2:178547638;178547637;178547636 | chr2:179412365;179412364;179412363 |
| 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/G | None | None | 1.0 | D | 0.847 | 0.903 | 0.700608386612 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| W/S | rs879156764  |
None | 1.0 | D | 0.895 | 0.77 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | rs879156764 |
None | 1.0 | D | 0.895 | 0.77 | None | gnomAD-4.0.0 | 6.57203E-06 | None | None | None | None | N | None | 2.41278E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9954 | likely_pathogenic | 0.9935 | pathogenic | -3.088 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/C | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.655266405 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -3.547 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.415 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/F | 0.7106 | likely_pathogenic | 0.697 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/G | 0.9831 | likely_pathogenic | 0.9736 | pathogenic | -3.349 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.655266405 | None | None | N |
| W/H | 0.9971 | likely_pathogenic | 0.9955 | pathogenic | -2.53 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/I | 0.9925 | likely_pathogenic | 0.9901 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.773 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/L | 0.9829 | likely_pathogenic | 0.9769 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.637804054 | None | None | N |
| W/M | 0.9967 | likely_pathogenic | 0.9957 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.552 | Highly Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.305 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/R | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.655266405 | None | None | N |
| W/S | 0.9943 | likely_pathogenic | 0.9915 | pathogenic | -3.664 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.655266405 | None | None | N |
| W/T | 0.9967 | likely_pathogenic | 0.9949 | pathogenic | -3.453 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/V | 0.9922 | likely_pathogenic | 0.9899 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/Y | 0.9697 | likely_pathogenic | 0.9586 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.862 | 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.