Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26678 | 80257;80258;80259 | chr2:178566100;178566099;178566098 | chr2:179430827;179430826;179430825 |
| N2AB | 25037 | 75334;75335;75336 | chr2:178566100;178566099;178566098 | chr2:179430827;179430826;179430825 |
| N2A | 24110 | 72553;72554;72555 | chr2:178566100;178566099;178566098 | chr2:179430827;179430826;179430825 |
| N2B | 17613 | 53062;53063;53064 | chr2:178566100;178566099;178566098 | chr2:179430827;179430826;179430825 |
| Novex-1 | 17738 | 53437;53438;53439 | chr2:178566100;178566099;178566098 | chr2:179430827;179430826;179430825 |
| Novex-2 | 17805 | 53638;53639;53640 | chr2:178566100;178566099;178566098 | chr2:179430827;179430826;179430825 |
| 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/L | rs1239747236  |
-0.33 | 0.117 | N | 0.293 | 0.18 | 0.31291088546 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/L | rs1239747236 |
-0.33 | 0.117 | N | 0.293 | 0.18 | 0.31291088546 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1239747236 |
-0.33 | 0.117 | N | 0.293 | 0.18 | 0.31291088546 | gnomAD-4.0.0 | 1.85927E-06 | None | None | None | None | N | None | 1.33486E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47685E-07 | 0 | 1.60133E-05 |
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 | 0.9256 | likely_pathogenic | 0.9161 | pathogenic | -1.928 | Destabilizing | 0.977 | D | 0.616 | neutral | D | 0.529699885 | None | None | N |
| V/C | 0.9629 | likely_pathogenic | 0.9624 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/D | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -1.923 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| V/E | 0.9925 | likely_pathogenic | 0.9931 | pathogenic | -1.78 | Destabilizing | 0.999 | D | 0.854 | deleterious | D | 0.530206865 | None | None | N |
| V/F | 0.5473 | ambiguous | 0.5059 | ambiguous | -1.186 | Destabilizing | 0.995 | D | 0.827 | deleterious | None | None | None | None | N |
| V/G | 0.9692 | likely_pathogenic | 0.9703 | pathogenic | -2.408 | Highly Destabilizing | 0.999 | D | 0.861 | deleterious | D | 0.530206865 | None | None | N |
| V/H | 0.9961 | likely_pathogenic | 0.9964 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/I | 0.0738 | likely_benign | 0.0694 | benign | -0.636 | Destabilizing | 0.921 | D | 0.545 | neutral | None | None | None | None | N |
| V/K | 0.9919 | likely_pathogenic | 0.9932 | pathogenic | -1.635 | Destabilizing | 0.998 | D | 0.846 | deleterious | None | None | None | None | N |
| V/L | 0.2611 | likely_benign | 0.2455 | benign | -0.636 | Destabilizing | 0.117 | N | 0.293 | neutral | N | 0.464061874 | None | None | N |
| V/M | 0.3759 | ambiguous | 0.3476 | ambiguous | -0.575 | Destabilizing | 0.993 | D | 0.756 | deleterious | N | 0.517672017 | None | None | N |
| V/N | 0.9923 | likely_pathogenic | 0.9928 | pathogenic | -1.709 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| V/P | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -1.035 | Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| V/Q | 0.9879 | likely_pathogenic | 0.9897 | pathogenic | -1.667 | Destabilizing | 0.999 | D | 0.864 | deleterious | None | None | None | None | N |
| V/R | 0.987 | likely_pathogenic | 0.9891 | pathogenic | -1.309 | Destabilizing | 0.998 | D | 0.873 | deleterious | None | None | None | None | N |
| V/S | 0.9825 | likely_pathogenic | 0.9827 | pathogenic | -2.381 | Highly Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | N |
| V/T | 0.9359 | likely_pathogenic | 0.9327 | pathogenic | -2.1 | Highly Destabilizing | 0.991 | D | 0.656 | neutral | None | None | None | None | N |
| V/W | 0.9894 | likely_pathogenic | 0.9881 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/Y | 0.9688 | likely_pathogenic | 0.9654 | pathogenic | -1.213 | Destabilizing | 0.999 | D | 0.81 | 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.