Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19072 | 57439;57440;57441 | chr2:178597956;178597955;178597954 | chr2:179462683;179462682;179462681 |
| N2AB | 17431 | 52516;52517;52518 | chr2:178597956;178597955;178597954 | chr2:179462683;179462682;179462681 |
| N2A | 16504 | 49735;49736;49737 | chr2:178597956;178597955;178597954 | chr2:179462683;179462682;179462681 |
| N2B | 10007 | 30244;30245;30246 | chr2:178597956;178597955;178597954 | chr2:179462683;179462682;179462681 |
| Novex-1 | 10132 | 30619;30620;30621 | chr2:178597956;178597955;178597954 | chr2:179462683;179462682;179462681 |
| Novex-2 | 10199 | 30820;30821;30822 | chr2:178597956;178597955;178597954 | chr2:179462683;179462682;179462681 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | N | 0.935 | 0.585 | 0.760441356224 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5645 | likely_pathogenic | 0.6469 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.53382703 | None | None | N |
| G/C | 0.8775 | likely_pathogenic | 0.893 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/D | 0.9779 | likely_pathogenic | 0.9827 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| G/E | 0.9848 | likely_pathogenic | 0.988 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.933 | deleterious | D | 0.53357354 | None | None | N |
| G/F | 0.9962 | likely_pathogenic | 0.9973 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/H | 0.9904 | likely_pathogenic | 0.9919 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/I | 0.9905 | likely_pathogenic | 0.9928 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/K | 0.9965 | likely_pathogenic | 0.9973 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| G/L | 0.9868 | likely_pathogenic | 0.9906 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| G/M | 0.9892 | likely_pathogenic | 0.9924 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/N | 0.9759 | likely_pathogenic | 0.9821 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/P | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| G/Q | 0.9867 | likely_pathogenic | 0.9892 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| G/R | 0.9866 | likely_pathogenic | 0.9889 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.935 | deleterious | N | 0.518342894 | None | None | N |
| G/S | 0.2118 | likely_benign | 0.2254 | benign | -1.509 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/T | 0.8297 | likely_pathogenic | 0.848 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| G/V | 0.9769 | likely_pathogenic | 0.9825 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.545690314 | None | None | N |
| G/W | 0.9898 | likely_pathogenic | 0.9903 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/Y | 0.9942 | likely_pathogenic | 0.9953 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.903 | 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.