Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26011 | 78256;78257;78258 | chr2:178568101;178568100;178568099 | chr2:179432828;179432827;179432826 |
| N2AB | 24370 | 73333;73334;73335 | chr2:178568101;178568100;178568099 | chr2:179432828;179432827;179432826 |
| N2A | 23443 | 70552;70553;70554 | chr2:178568101;178568100;178568099 | chr2:179432828;179432827;179432826 |
| N2B | 16946 | 51061;51062;51063 | chr2:178568101;178568100;178568099 | chr2:179432828;179432827;179432826 |
| Novex-1 | 17071 | 51436;51437;51438 | chr2:178568101;178568100;178568099 | chr2:179432828;179432827;179432826 |
| Novex-2 | 17138 | 51637;51638;51639 | chr2:178568101;178568100;178568099 | chr2:179432828;179432827;179432826 |
| 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 | 0.875 | 0.879 | 0.903653336386 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -3.904 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/C | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.678097109 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.976 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.87 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/F | 0.8848 | likely_pathogenic | 0.8652 | pathogenic | -2.767 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/G | 0.9895 | likely_pathogenic | 0.991 | pathogenic | -4.108 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.678097109 | None | None | N |
| W/H | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -3.209 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/I | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -3.075 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.012 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/L | 0.9939 | likely_pathogenic | 0.9944 | pathogenic | -3.075 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.677088087 | None | None | N |
| W/M | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.623 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.385 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.508 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.62 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.678097109 | None | None | N |
| W/S | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -3.719 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.678097109 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -3.546 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/V | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -3.385 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/Y | 0.9728 | likely_pathogenic | 0.9712 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.837 | 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.