Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33848 | 101767;101768;101769 | chr2:178535073;178535072;178535071 | chr2:179399800;179399799;179399798 |
| N2AB | 32207 | 96844;96845;96846 | chr2:178535073;178535072;178535071 | chr2:179399800;179399799;179399798 |
| N2A | 31280 | 94063;94064;94065 | chr2:178535073;178535072;178535071 | chr2:179399800;179399799;179399798 |
| N2B | 24783 | 74572;74573;74574 | chr2:178535073;178535072;178535071 | chr2:179399800;179399799;179399798 |
| Novex-1 | 24908 | 74947;74948;74949 | chr2:178535073;178535072;178535071 | chr2:179399800;179399799;179399798 |
| Novex-2 | 24975 | 75148;75149;75150 | chr2:178535073;178535072;178535071 | chr2:179399800;179399799;179399798 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: K
- RefSeq wild type transcript codon: AAA
- RefSeq wild type template codon: TTT
- Domain: Kinase-1
- Domain position: 36
- Q(SASA): 0.0865
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs774004640  |
-1.735 | None | D | None | 0.679 | 0.411799315854 | gnomAD-2.1.1 | 2.01E-05 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.44E-05 | 0 |
| K/N | rs774004640 |
-1.735 | None | D | None | 0.679 | 0.411799315854 | gnomAD-4.0.0 | 2.05253E-05 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.60831E-05 | 0 | 1.65634E-05 |
| K/R | rs759258408 |
-0.945 | None | D | None | 0.717 | 0.541105671861 | gnomAD-2.1.1 | 4.02E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/R | rs759258408 |
-0.945 | None | D | None | 0.717 | 0.541105671861 | gnomAD-4.0.0 | 1.59109E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9555 | likely_pathogenic | 0.9509 | pathogenic | -1.537 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/C | 0.9621 | likely_pathogenic | 0.9652 | pathogenic | -1.626 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/D | 0.9914 | likely_pathogenic | 0.9898 | pathogenic | -1.621 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/E | 0.942 | likely_pathogenic | 0.9301 | pathogenic | -1.335 | Destabilizing | None | None | None | None | D | 0.576850139 | ATP binding | None | N |
| K/F | 0.9949 | likely_pathogenic | 0.9944 | pathogenic | -0.863 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/G | 0.9825 | likely_pathogenic | 0.9812 | pathogenic | -2.01 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/H | 0.8896 | likely_pathogenic | 0.8826 | pathogenic | -2.043 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/I | 0.9438 | likely_pathogenic | 0.9354 | pathogenic | -0.203 | Destabilizing | None | None | None | None | D | 0.573337309 | ATP binding | None | N |
| K/L | 0.9298 | likely_pathogenic | 0.9211 | pathogenic | -0.203 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/M | 0.8938 | likely_pathogenic | 0.8801 | pathogenic | -0.556 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/N | 0.9771 | likely_pathogenic | 0.9723 | pathogenic | -1.635 | Destabilizing | None | None | None | None | D | 0.602388251 | ATP binding | None | N |
| K/P | 0.9973 | likely_pathogenic | 0.9969 | pathogenic | -0.626 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/Q | 0.8118 | likely_pathogenic | 0.809 | pathogenic | -1.35 | Destabilizing | None | None | None | None | D | 0.576648335 | ATP binding | None | N |
| K/R | 0.2601 | likely_benign | 0.2756 | benign | -0.996 | Destabilizing | None | None | None | None | D | 0.572772975 | ATP binding | None | N |
| K/S | 0.9642 | likely_pathogenic | 0.9592 | pathogenic | -2.263 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/T | 0.8264 | likely_pathogenic | 0.7989 | pathogenic | -1.714 | Destabilizing | None | None | None | None | D | 0.608888861 | ATP binding | None | N |
| K/V | 0.886 | likely_pathogenic | 0.8777 | pathogenic | -0.626 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/W | 0.9929 | likely_pathogenic | 0.9931 | pathogenic | -0.835 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| K/Y | 0.9788 | likely_pathogenic | 0.9765 | pathogenic | -0.485 | 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.