Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13756 | 41491;41492;41493 | chr2:178636461;178636460;178636459 | chr2:179501188;179501187;179501186 |
| N2AB | 12115 | 36568;36569;36570 | chr2:178636461;178636460;178636459 | chr2:179501188;179501187;179501186 |
| N2A | 11188 | 33787;33788;33789 | chr2:178636461;178636460;178636459 | chr2:179501188;179501187;179501186 |
| N2B | 4691 | 14296;14297;14298 | chr2:178636461;178636460;178636459 | chr2:179501188;179501187;179501186 |
| Novex-1 | 4816 | 14671;14672;14673 | chr2:178636461;178636460;178636459 | chr2:179501188;179501187;179501186 |
| Novex-2 | 4883 | 14872;14873;14874 | chr2:178636461;178636460;178636459 | chr2:179501188;179501187;179501186 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/N | rs1314692821  |
-2.646 | 1.0 | D | 0.898 | 0.899 | 0.919913723198 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/C | 0.9974 | likely_pathogenic | 0.9986 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.809679107 | None | None | N |
| Y/D | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -2.901 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.809679107 | None | None | N |
| Y/E | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.656 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| Y/F | 0.5333 | ambiguous | 0.6158 | pathogenic | -0.689 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | D | 0.657163323 | None | None | N |
| Y/G | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -2.565 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/H | 0.998 | likely_pathogenic | 0.9988 | pathogenic | -2.072 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.775602611 | None | None | N |
| Y/I | 0.988 | likely_pathogenic | 0.9927 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/L | 0.9757 | likely_pathogenic | 0.9836 | pathogenic | -0.669 | Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | N |
| Y/M | 0.9953 | likely_pathogenic | 0.9971 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/N | 0.9964 | likely_pathogenic | 0.9978 | pathogenic | -2.427 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.809679107 | None | None | N |
| Y/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| Y/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.987 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/R | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.871 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/S | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.638 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.809679107 | None | None | N |
| Y/T | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -2.245 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| Y/V | 0.9841 | likely_pathogenic | 0.9904 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/W | 0.9494 | likely_pathogenic | 0.9634 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.789 | 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.