Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3537 | 10834;10835;10836 | chr2:178757611;178757610;178757609 | chr2:179622338;179622337;179622336 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3491 | 10696;10697;10698 | chr2:178757611;178757610;178757609 | chr2:179622338;179622337;179622336 |
| 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 | rs2087695492  |
None | None | None | None | 0.661 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| Y/H | rs1553969617 |
None | None | None | None | 0.644 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.9973 | likely_pathogenic | None | None | -2.983 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.979 | likely_pathogenic | None | None | -2.101 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/D | 0.9979 | likely_pathogenic | None | None | -3.689 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/E | 0.9992 | likely_pathogenic | None | None | -3.461 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.2649 | likely_benign | None | None | -1.048 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/G | 0.9954 | likely_pathogenic | None | None | -3.425 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.9866 | likely_pathogenic | None | None | -2.367 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/I | 0.9126 | likely_pathogenic | None | None | -1.503 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.999 | likely_pathogenic | None | None | -2.263 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.8855 | likely_pathogenic | None | None | -1.503 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.9836 | likely_pathogenic | None | None | -1.49 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.9909 | likely_pathogenic | None | None | -3.169 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/P | 0.9989 | likely_pathogenic | None | None | -2.015 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9992 | likely_pathogenic | None | None | -2.839 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.9971 | likely_pathogenic | None | None | -2.19 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.9944 | likely_pathogenic | None | None | -3.477 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/T | 0.9968 | likely_pathogenic | None | None | -3.113 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.8941 | likely_pathogenic | None | None | -2.015 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.9091 | likely_pathogenic | None | None | -0.399 | Destabilizing | None | None | None | None | 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.