Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29528 | 88807;88808;88809 | chr2:178554877;178554876;178554875 | chr2:179419604;179419603;179419602 |
| N2AB | 27887 | 83884;83885;83886 | chr2:178554877;178554876;178554875 | chr2:179419604;179419603;179419602 |
| N2A | 26960 | 81103;81104;81105 | chr2:178554877;178554876;178554875 | chr2:179419604;179419603;179419602 |
| N2B | 20463 | 61612;61613;61614 | chr2:178554877;178554876;178554875 | chr2:179419604;179419603;179419602 |
| Novex-1 | 20588 | 61987;61988;61989 | chr2:178554877;178554876;178554875 | chr2:179419604;179419603;179419602 |
| Novex-2 | 20655 | 62188;62189;62190 | chr2:178554877;178554876;178554875 | chr2:179419604;179419603;179419602 |
| 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/I | rs747737173  |
-0.129 | None | N | 0.301 | 0.059 | 0.364141725642 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/I | rs747737173 |
-0.129 | None | N | 0.301 | 0.059 | 0.364141725642 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs747737173 |
-0.129 | None | N | 0.301 | 0.059 | 0.364141725642 | gnomAD-4.0.0 | 3.47014E-05 | None | None | None | None | N | None | 1.3349E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.57686E-05 | 0 | 1.60113E-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 | 0.8348 | likely_pathogenic | 0.8209 | pathogenic | -2.08 | Highly Destabilizing | 0.052 | N | 0.665 | neutral | N | 0.472753774 | None | None | N |
| V/C | 0.91 | likely_pathogenic | 0.8913 | pathogenic | -1.578 | Destabilizing | 0.935 | D | 0.803 | deleterious | None | None | None | None | N |
| V/D | 0.9957 | likely_pathogenic | 0.9952 | pathogenic | -2.764 | Highly Destabilizing | 0.791 | D | 0.871 | deleterious | None | None | None | None | N |
| V/E | 0.9874 | likely_pathogenic | 0.9854 | pathogenic | -2.506 | Highly Destabilizing | 0.484 | N | 0.845 | deleterious | N | 0.473260753 | None | None | N |
| V/F | 0.5199 | ambiguous | 0.52 | ambiguous | -1.229 | Destabilizing | 0.235 | N | 0.815 | deleterious | None | None | None | None | N |
| V/G | 0.8724 | likely_pathogenic | 0.8648 | pathogenic | -2.662 | Highly Destabilizing | 0.484 | N | 0.854 | deleterious | N | 0.473260753 | None | None | N |
| V/H | 0.9933 | likely_pathogenic | 0.9917 | pathogenic | -2.496 | Highly Destabilizing | 0.935 | D | 0.855 | deleterious | None | None | None | None | N |
| V/I | 0.0896 | likely_benign | 0.0878 | benign | -0.438 | Destabilizing | None | N | 0.301 | neutral | N | 0.459347567 | None | None | N |
| V/K | 0.9875 | likely_pathogenic | 0.9856 | pathogenic | -1.763 | Destabilizing | 0.555 | D | 0.836 | deleterious | None | None | None | None | N |
| V/L | 0.2446 | likely_benign | 0.1679 | benign | -0.438 | Destabilizing | None | N | 0.349 | neutral | N | 0.377597683 | None | None | N |
| V/M | 0.4129 | ambiguous | 0.355 | ambiguous | -0.49 | Destabilizing | 0.235 | N | 0.718 | prob.delet. | None | None | None | None | N |
| V/N | 0.9857 | likely_pathogenic | 0.9833 | pathogenic | -2.188 | Highly Destabilizing | 0.791 | D | 0.865 | deleterious | None | None | None | None | N |
| V/P | 0.9849 | likely_pathogenic | 0.9841 | pathogenic | -0.96 | Destabilizing | 0.791 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Q | 0.9827 | likely_pathogenic | 0.9773 | pathogenic | -1.959 | Destabilizing | 0.791 | D | 0.837 | deleterious | None | None | None | None | N |
| V/R | 0.9817 | likely_pathogenic | 0.9782 | pathogenic | -1.687 | Destabilizing | 0.555 | D | 0.87 | deleterious | None | None | None | None | N |
| V/S | 0.9617 | likely_pathogenic | 0.9603 | pathogenic | -2.81 | Highly Destabilizing | 0.555 | D | 0.845 | deleterious | None | None | None | None | N |
| V/T | 0.8853 | likely_pathogenic | 0.873 | pathogenic | -2.396 | Highly Destabilizing | 0.149 | N | 0.668 | neutral | None | None | None | None | N |
| V/W | 0.9868 | likely_pathogenic | 0.9836 | pathogenic | -1.816 | Destabilizing | 0.935 | D | 0.861 | deleterious | None | None | None | None | N |
| V/Y | 0.954 | likely_pathogenic | 0.9505 | pathogenic | -1.396 | Destabilizing | 0.555 | D | 0.82 | 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.