Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33825 | 101698;101699;101700 | chr2:178535142;178535141;178535140 | chr2:179399869;179399868;179399867 |
| N2AB | 32184 | 96775;96776;96777 | chr2:178535142;178535141;178535140 | chr2:179399869;179399868;179399867 |
| N2A | 31257 | 93994;93995;93996 | chr2:178535142;178535141;178535140 | chr2:179399869;179399868;179399867 |
| N2B | 24760 | 74503;74504;74505 | chr2:178535142;178535141;178535140 | chr2:179399869;179399868;179399867 |
| Novex-1 | 24885 | 74878;74879;74880 | chr2:178535142;178535141;178535140 | chr2:179399869;179399868;179399867 |
| Novex-2 | 24952 | 75079;75080;75081 | chr2:178535142;178535141;178535140 | chr2:179399869;179399868;179399867 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTT
- RefSeq wild type template codon: GAA
- Domain: Kinase-1
- Domain position: 13
- Q(SASA): 0.0957
- Site annotation: ATP binding
- Predicted PPI site: N
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1389553978  |
-1.805 | None | N | None | 0.462 | 0.688843464904 | gnomAD-2.1.1 | 4.02E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| L/F | rs1389553978 |
-1.805 | None | N | None | 0.462 | 0.688843464904 | gnomAD-4.0.0 | 1.36841E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 0 | 0 |
| L/I | None | None | None | N | None | 0.331 | 0.556065018184 | gnomAD-4.0.0 | 6.84205E-07 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| L/P | rs1559044679 |
None | None | D | None | 0.649 | 0.872696436671 | gnomAD-2.1.1 | 4.02E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs1559044679 |
None | None | D | None | 0.649 | 0.872696436671 | gnomAD-4.0.0 | 1.59121E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 2.77239E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8523 | likely_pathogenic | 0.8522 | pathogenic | -2.743 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/C | 0.9293 | likely_pathogenic | 0.9391 | pathogenic | -1.978 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/D | 0.9938 | likely_pathogenic | 0.9944 | pathogenic | -3.067 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/E | 0.9695 | likely_pathogenic | 0.9696 | pathogenic | -2.941 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/F | 0.6477 | likely_pathogenic | 0.6732 | pathogenic | -1.801 | Destabilizing | None | None | None | None | N | 0.490849981 | ATP binding | None | N |
| L/G | 0.9755 | likely_pathogenic | 0.9772 | pathogenic | -3.195 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/H | 0.9555 | likely_pathogenic | 0.957 | pathogenic | -2.433 | Highly Destabilizing | None | None | None | None | D | 0.525932856 | ATP binding | None | N |
| L/I | 0.1909 | likely_benign | 0.1986 | benign | -1.467 | Destabilizing | None | None | None | None | N | 0.46383624 | ATP binding | None | N |
| L/K | 0.9521 | likely_pathogenic | 0.9522 | pathogenic | -2.207 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/M | 0.3245 | likely_benign | 0.3381 | benign | -1.241 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/N | 0.9731 | likely_pathogenic | 0.9737 | pathogenic | -2.325 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/P | 0.9763 | likely_pathogenic | 0.984 | pathogenic | -1.872 | Destabilizing | None | None | None | None | D | 0.525932856 | ATP binding | None | N |
| L/Q | 0.9354 | likely_pathogenic | 0.9366 | pathogenic | -2.379 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/R | 0.9269 | likely_pathogenic | 0.9274 | pathogenic | -1.586 | Destabilizing | None | None | None | None | D | 0.525932856 | ATP binding | None | N |
| L/S | 0.957 | likely_pathogenic | 0.9575 | pathogenic | -2.963 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/T | 0.821 | likely_pathogenic | 0.8193 | pathogenic | -2.718 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/V | 0.3015 | likely_benign | 0.3314 | benign | -1.872 | Destabilizing | None | None | None | None | N | 0.493762076 | ATP binding | None | N |
| L/W | 0.9191 | likely_pathogenic | 0.9267 | pathogenic | -2.095 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| L/Y | 0.9458 | likely_pathogenic | 0.9495 | pathogenic | -1.9 | Destabilizing | None | None | None | None | None | None | ATP binding | 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.