Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14883 | 44872;44873;44874 | chr2:178624633;178624632;178624631 | chr2:179489360;179489359;179489358 |
| N2AB | 13242 | 39949;39950;39951 | chr2:178624633;178624632;178624631 | chr2:179489360;179489359;179489358 |
| N2A | 12315 | 37168;37169;37170 | chr2:178624633;178624632;178624631 | chr2:179489360;179489359;179489358 |
| N2B | 5818 | 17677;17678;17679 | chr2:178624633;178624632;178624631 | chr2:179489360;179489359;179489358 |
| Novex-1 | 5943 | 18052;18053;18054 | chr2:178624633;178624632;178624631 | chr2:179489360;179489359;179489358 |
| Novex-2 | 6010 | 18253;18254;18255 | chr2:178624633;178624632;178624631 | chr2:179489360;179489359;179489358 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | D | 0.603 | 0.704 | 0.787503885549 | 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 |
| V/L | rs1175129824  |
-0.477 | 0.997 | D | 0.629 | 0.579 | 0.775077876068 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/M | None | None | 1.0 | D | 0.756 | 0.591 | 0.801802706094 | gnomAD-4.0.0 | 1.59376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86272E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8466 | likely_pathogenic | 0.8213 | pathogenic | -1.574 | Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.68596939 | None | None | N |
| V/C | 0.9821 | likely_pathogenic | 0.9775 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| V/D | 0.9865 | likely_pathogenic | 0.9844 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/E | 0.972 | likely_pathogenic | 0.9665 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.819146031 | None | None | N |
| V/F | 0.909 | likely_pathogenic | 0.8726 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/G | 0.8247 | likely_pathogenic | 0.8041 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.650844912 | None | None | N |
| V/H | 0.9968 | likely_pathogenic | 0.9954 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/I | 0.2237 | likely_benign | 0.1922 | benign | -0.653 | Destabilizing | 0.998 | D | 0.593 | neutral | None | None | None | None | N |
| V/K | 0.9896 | likely_pathogenic | 0.988 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/L | 0.8859 | likely_pathogenic | 0.8494 | pathogenic | -0.653 | Destabilizing | 0.997 | D | 0.629 | neutral | D | 0.626880905 | None | None | N |
| V/M | 0.8656 | likely_pathogenic | 0.809 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.694327031 | None | None | N |
| V/N | 0.9752 | likely_pathogenic | 0.9709 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| V/P | 0.9652 | likely_pathogenic | 0.9606 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/Q | 0.982 | likely_pathogenic | 0.9802 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/R | 0.9839 | likely_pathogenic | 0.9823 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/S | 0.9286 | likely_pathogenic | 0.9166 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/T | 0.8325 | likely_pathogenic | 0.8263 | pathogenic | -1.5 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| V/W | 0.998 | likely_pathogenic | 0.9969 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/Y | 0.9885 | likely_pathogenic | 0.983 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.781 | 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.