Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16982 | 51169;51170;51171 | chr2:178611185;178611184;178611183 | chr2:179475912;179475911;179475910 |
| N2AB | 15341 | 46246;46247;46248 | chr2:178611185;178611184;178611183 | chr2:179475912;179475911;179475910 |
| N2A | 14414 | 43465;43466;43467 | chr2:178611185;178611184;178611183 | chr2:179475912;179475911;179475910 |
| N2B | 7917 | 23974;23975;23976 | chr2:178611185;178611184;178611183 | chr2:179475912;179475911;179475910 |
| Novex-1 | 8042 | 24349;24350;24351 | chr2:178611185;178611184;178611183 | chr2:179475912;179475911;179475910 |
| Novex-2 | 8109 | 24550;24551;24552 | chr2:178611185;178611184;178611183 | chr2:179475912;179475911;179475910 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs1402845968  |
None | 1.0 | D | 0.789 | 0.752 | 0.681754529401 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1402845968 |
None | 1.0 | D | 0.789 | 0.752 | 0.681754529401 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1402845968 |
None | 1.0 | D | 0.789 | 0.752 | 0.681754529401 | gnomAD-4.0.0 | 6.58276E-06 | None | None | None | None | I | None | 2.41569E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1178993608 |
-0.622 | 1.0 | D | 0.751 | 0.783 | 0.606518698375 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| P/S | rs1178993608 |
-0.622 | 1.0 | D | 0.751 | 0.783 | 0.606518698375 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1178993608 |
-0.622 | 1.0 | D | 0.751 | 0.783 | 0.606518698375 | gnomAD-4.0.0 | 3.84918E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79207E-06 | 0 | 2.85014E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9188 | likely_pathogenic | 0.8509 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.720762892 | None | None | I |
| P/C | 0.9939 | likely_pathogenic | 0.9886 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| P/D | 0.9852 | likely_pathogenic | 0.9763 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| P/E | 0.981 | likely_pathogenic | 0.9638 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| P/F | 0.9975 | likely_pathogenic | 0.9944 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| P/G | 0.9693 | likely_pathogenic | 0.9513 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| P/H | 0.9843 | likely_pathogenic | 0.9671 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| P/I | 0.9825 | likely_pathogenic | 0.9662 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| P/K | 0.9885 | likely_pathogenic | 0.9778 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| P/L | 0.948 | likely_pathogenic | 0.9028 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.809540418 | None | None | I |
| P/M | 0.9859 | likely_pathogenic | 0.9721 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| P/N | 0.9863 | likely_pathogenic | 0.9762 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| P/Q | 0.9788 | likely_pathogenic | 0.9541 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.757994927 | None | None | I |
| P/R | 0.9754 | likely_pathogenic | 0.9474 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.758470758 | None | None | I |
| P/S | 0.9722 | likely_pathogenic | 0.9413 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.734957706 | None | None | I |
| P/T | 0.9412 | likely_pathogenic | 0.8813 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.793883561 | None | None | I |
| P/V | 0.9615 | likely_pathogenic | 0.9305 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| P/W | 0.9984 | likely_pathogenic | 0.9963 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/Y | 0.9964 | likely_pathogenic | 0.9921 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
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.