Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25961 | 78106;78107;78108 | chr2:178568251;178568250;178568249 | chr2:179432978;179432977;179432976 |
| N2AB | 24320 | 73183;73184;73185 | chr2:178568251;178568250;178568249 | chr2:179432978;179432977;179432976 |
| N2A | 23393 | 70402;70403;70404 | chr2:178568251;178568250;178568249 | chr2:179432978;179432977;179432976 |
| N2B | 16896 | 50911;50912;50913 | chr2:178568251;178568250;178568249 | chr2:179432978;179432977;179432976 |
| Novex-1 | 17021 | 51286;51287;51288 | chr2:178568251;178568250;178568249 | chr2:179432978;179432977;179432976 |
| Novex-2 | 17088 | 51487;51488;51489 | chr2:178568251;178568250;178568249 | chr2:179432978;179432977;179432976 |
| 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/D | rs772167869  |
-3.866 | 1.0 | D | 0.876 | 0.89 | 0.941918410204 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/D | rs772167869 |
-3.866 | 1.0 | D | 0.876 | 0.89 | 0.941918410204 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77516E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -3.47 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/C | 0.9543 | likely_pathogenic | 0.9658 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.687562268 | None | None | N |
| Y/D | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | -3.831 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.687562268 | None | None | N |
| Y/E | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -3.628 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| Y/F | 0.4183 | ambiguous | 0.4109 | ambiguous | -1.278 | Destabilizing | 0.999 | D | 0.767 | deleterious | D | 0.632348159 | None | None | N |
| Y/G | 0.9915 | likely_pathogenic | 0.9944 | pathogenic | -3.88 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/H | 0.9821 | likely_pathogenic | 0.9858 | pathogenic | -2.435 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.687562268 | None | None | N |
| Y/I | 0.981 | likely_pathogenic | 0.9812 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/K | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.48 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/L | 0.9678 | likely_pathogenic | 0.9718 | pathogenic | -2.091 | Highly Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/M | 0.9879 | likely_pathogenic | 0.9881 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/N | 0.9779 | likely_pathogenic | 0.9826 | pathogenic | -3.248 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.687360463 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.568 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/Q | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -3.021 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/R | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -2.139 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/S | 0.9906 | likely_pathogenic | 0.9934 | pathogenic | -3.59 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.687562268 | None | None | N |
| Y/T | 0.9964 | likely_pathogenic | 0.9972 | pathogenic | -3.269 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| Y/V | 0.9645 | likely_pathogenic | 0.9658 | pathogenic | -2.568 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/W | 0.9292 | likely_pathogenic | 0.9375 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.819 | 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.