Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22026 | 66301;66302;66303 | chr2:178582380;178582379;178582378 | chr2:179447107;179447106;179447105 |
| N2AB | 20385 | 61378;61379;61380 | chr2:178582380;178582379;178582378 | chr2:179447107;179447106;179447105 |
| N2A | 19458 | 58597;58598;58599 | chr2:178582380;178582379;178582378 | chr2:179447107;179447106;179447105 |
| N2B | 12961 | 39106;39107;39108 | chr2:178582380;178582379;178582378 | chr2:179447107;179447106;179447105 |
| Novex-1 | 13086 | 39481;39482;39483 | chr2:178582380;178582379;178582378 | chr2:179447107;179447106;179447105 |
| Novex-2 | 13153 | 39682;39683;39684 | chr2:178582380;178582379;178582378 | chr2:179447107;179447106;179447105 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | rs1298916237  |
-1.27 | 0.999 | D | 0.751 | 0.86 | 0.861746248392 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| Y/F | rs1298916237 |
-1.27 | 0.999 | D | 0.751 | 0.86 | 0.861746248392 | gnomAD-4.0.0 | 3.18774E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.872E-05 | 0 |
| Y/H | None | None | 1.0 | D | 0.851 | 0.848 | 0.792118814917 | gnomAD-4.0.0 | 1.59393E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.77373E-05 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.403 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| Y/C | 0.9972 | likely_pathogenic | 0.9959 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.685937115 | None | None | N |
| Y/D | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.767 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.685937115 | None | None | N |
| Y/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.583 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/F | 0.8095 | likely_pathogenic | 0.7924 | pathogenic | -1.165 | Destabilizing | 0.999 | D | 0.751 | deleterious | D | 0.646742368 | None | None | N |
| Y/G | 0.9968 | likely_pathogenic | 0.9961 | pathogenic | -3.78 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/H | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.685937115 | None | None | N |
| Y/I | 0.9927 | likely_pathogenic | 0.9895 | pathogenic | -2.13 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.344 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| Y/L | 0.9852 | likely_pathogenic | 0.983 | pathogenic | -2.13 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/M | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/N | 0.9928 | likely_pathogenic | 0.9922 | pathogenic | -3.043 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.685735311 | None | None | N |
| Y/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.865 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/R | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/S | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -3.376 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.685937115 | None | None | N |
| Y/T | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -3.089 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| Y/V | 0.986 | likely_pathogenic | 0.9806 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/W | 0.981 | likely_pathogenic | 0.9786 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.831 | 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.