Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14403 | 43432;43433;43434 | chr2:178632924;178632923;178632922 | chr2:179497651;179497650;179497649 |
| N2AB | 12762 | 38509;38510;38511 | chr2:178632924;178632923;178632922 | chr2:179497651;179497650;179497649 |
| N2A | 11835 | 35728;35729;35730 | chr2:178632924;178632923;178632922 | chr2:179497651;179497650;179497649 |
| N2B | 5338 | 16237;16238;16239 | chr2:178632924;178632923;178632922 | chr2:179497651;179497650;179497649 |
| Novex-1 | 5463 | 16612;16613;16614 | chr2:178632924;178632923;178632922 | chr2:179497651;179497650;179497649 |
| Novex-2 | 5530 | 16813;16814;16815 | chr2:178632924;178632923;178632922 | chr2:179497651;179497650;179497649 |
| 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/E | rs1328335673  |
-3.079 | 0.999 | D | 0.825 | 0.653 | 0.817904248791 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/E | rs1328335673 |
-3.079 | 0.999 | D | 0.825 | 0.653 | 0.817904248791 | gnomAD-4.0.0 | 6.8466E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99828E-07 | 0 | 0 |
| V/G | None | None | 0.999 | D | 0.798 | 0.678 | 0.81560881684 | gnomAD-4.0.0 | 6.8466E-07 | None | None | None | None | N | None | 0 | 2.24085E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | None | None | 0.994 | D | 0.521 | 0.51 | 0.59496020979 | gnomAD-4.0.0 | 1.36929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73853E-04 | 8.99818E-07 | 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 | 0.8964 | likely_pathogenic | 0.8358 | pathogenic | -2.338 | Highly Destabilizing | 0.997 | D | 0.499 | neutral | D | 0.702378271 | None | None | N |
| V/C | 0.9837 | likely_pathogenic | 0.9759 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/D | 0.9936 | likely_pathogenic | 0.9916 | pathogenic | -3.106 | Highly Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| V/E | 0.9763 | likely_pathogenic | 0.9711 | pathogenic | -2.931 | Highly Destabilizing | 0.999 | D | 0.825 | deleterious | D | 0.705650233 | None | None | N |
| V/F | 0.9407 | likely_pathogenic | 0.9247 | pathogenic | -1.35 | Destabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | N |
| V/G | 0.8586 | likely_pathogenic | 0.8192 | pathogenic | -2.785 | Highly Destabilizing | 0.999 | D | 0.798 | deleterious | D | 0.705650233 | None | None | N |
| V/H | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/I | 0.1904 | likely_benign | 0.1831 | benign | -1.093 | Destabilizing | 0.995 | D | 0.503 | neutral | None | None | None | None | N |
| V/K | 0.9891 | likely_pathogenic | 0.9865 | pathogenic | -1.889 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/L | 0.8791 | likely_pathogenic | 0.84 | pathogenic | -1.093 | Destabilizing | 0.994 | D | 0.521 | neutral | D | 0.700637728 | None | None | N |
| V/M | 0.8852 | likely_pathogenic | 0.8446 | pathogenic | -1.224 | Destabilizing | 0.999 | D | 0.784 | deleterious | D | 0.705284324 | None | None | N |
| V/N | 0.9839 | likely_pathogenic | 0.9775 | pathogenic | -2.15 | Highly Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| V/P | 0.9858 | likely_pathogenic | 0.9802 | pathogenic | -1.485 | Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
| V/Q | 0.9878 | likely_pathogenic | 0.9833 | pathogenic | -2.076 | Highly Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
| V/R | 0.9832 | likely_pathogenic | 0.9796 | pathogenic | -1.571 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| V/S | 0.9638 | likely_pathogenic | 0.944 | pathogenic | -2.669 | Highly Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| V/T | 0.9239 | likely_pathogenic | 0.8912 | pathogenic | -2.383 | Highly Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| V/W | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| V/Y | 0.9931 | likely_pathogenic | 0.9918 | pathogenic | -1.537 | Destabilizing | 0.999 | D | 0.865 | 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.