Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7959 | 24100;24101;24102 | chr2:178719617;178719616;178719615 | chr2:179584344;179584343;179584342 |
| N2AB | 7642 | 23149;23150;23151 | chr2:178719617;178719616;178719615 | chr2:179584344;179584343;179584342 |
| N2A | 6715 | 20368;20369;20370 | chr2:178719617;178719616;178719615 | chr2:179584344;179584343;179584342 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | rs1442939015  |
-1.704 | 1.0 | D | 0.861 | 0.861 | 0.874922040637 | 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 |
| Y/C | rs1442939015 |
-1.704 | 1.0 | D | 0.861 | 0.861 | 0.874922040637 | gnomAD-4.0.0 | 3.183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86574E-05 | 0 |
| Y/D | None | None | 1.0 | D | 0.876 | 0.85 | 0.909055441313 | gnomAD-4.0.0 | 6.84253E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
| Y/H | rs1056651296 |
None | 1.0 | D | 0.781 | 0.823 | 0.762598717835 | gnomAD-4.0.0 | 6.84253E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99536E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9964 | likely_pathogenic | 0.9969 | pathogenic | -2.548 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/C | 0.9452 | likely_pathogenic | 0.948 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.656673701 | None | None | N |
| Y/D | 0.9975 | likely_pathogenic | 0.9979 | pathogenic | -3.185 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.672693062 | None | None | N |
| Y/E | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.933 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/F | 0.2379 | likely_benign | 0.2363 | benign | -0.926 | Destabilizing | 0.999 | D | 0.675 | neutral | D | 0.619396991 | None | None | N |
| Y/G | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| Y/H | 0.9642 | likely_pathogenic | 0.9653 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.672491258 | None | None | N |
| Y/I | 0.9193 | likely_pathogenic | 0.9275 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/K | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.088 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| Y/L | 0.8357 | likely_pathogenic | 0.8473 | pathogenic | -1.008 | Destabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | N |
| Y/M | 0.9838 | likely_pathogenic | 0.985 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| Y/N | 0.9892 | likely_pathogenic | 0.9895 | pathogenic | -3.045 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.672693062 | None | None | N |
| Y/P | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/Q | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -2.595 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| Y/R | 0.9924 | likely_pathogenic | 0.993 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/S | 0.9903 | likely_pathogenic | 0.9913 | pathogenic | -3.351 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.672693062 | None | None | N |
| Y/T | 0.9961 | likely_pathogenic | 0.9966 | pathogenic | -2.949 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/V | 0.8932 | likely_pathogenic | 0.9076 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| Y/W | 0.806 | likely_pathogenic | 0.8291 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.778 | 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.