Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33853 | 101782;101783;101784 | chr2:178535058;178535057;178535056 | chr2:179399785;179399784;179399783 |
| N2AB | 32212 | 96859;96860;96861 | chr2:178535058;178535057;178535056 | chr2:179399785;179399784;179399783 |
| N2A | 31285 | 94078;94079;94080 | chr2:178535058;178535057;178535056 | chr2:179399785;179399784;179399783 |
| N2B | 24788 | 74587;74588;74589 | chr2:178535058;178535057;178535056 | chr2:179399785;179399784;179399783 |
| Novex-1 | 24913 | 74962;74963;74964 | chr2:178535058;178535057;178535056 | chr2:179399785;179399784;179399783 |
| Novex-2 | 24980 | 75163;75164;75165 | chr2:178535058;178535057;178535056 | chr2:179399785;179399784;179399783 |
| 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: 41
- Q(SASA): 0.4631
- 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/E | rs727505163  |
0.194 | None | N | None | 0.45 | 0.456552270603 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| K/E | rs727505163 |
0.194 | None | N | None | 0.45 | 0.456552270603 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/E | rs727505163 |
0.194 | None | N | None | 0.45 | 0.456552270603 | gnomAD-4.0.0 | 3.84262E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17772E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7987 | likely_pathogenic | 0.7428 | pathogenic | 0.028 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.9263 | likely_pathogenic | 0.9196 | pathogenic | -0.078 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.9265 | likely_pathogenic | 0.8743 | pathogenic | 0.072 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.6662 | likely_pathogenic | 0.5853 | pathogenic | 0.09 | Stabilizing | None | None | None | None | N | 0.509929181 | None | None | N |
| K/F | 0.9697 | likely_pathogenic | 0.9674 | pathogenic | -0.059 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.8614 | likely_pathogenic | 0.8059 | pathogenic | -0.21 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.6748 | likely_pathogenic | 0.6126 | pathogenic | -0.511 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.8522 | likely_pathogenic | 0.8231 | pathogenic | 0.583 | Stabilizing | None | None | None | None | N | 0.515761863 | None | None | N |
| K/L | 0.8127 | likely_pathogenic | 0.7821 | pathogenic | 0.583 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.7212 | likely_pathogenic | 0.6977 | pathogenic | 0.383 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/N | 0.8602 | likely_pathogenic | 0.7871 | pathogenic | 0.293 | Stabilizing | None | None | None | None | N | 0.490287415 | None | None | N |
| K/P | 0.9507 | likely_pathogenic | 0.8962 | pathogenic | 0.427 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.4012 | ambiguous | 0.3571 | ambiguous | 0.108 | Stabilizing | None | None | None | None | N | 0.498482824 | None | None | N |
| K/R | 0.1111 | likely_benign | 0.106 | benign | -0.033 | Destabilizing | None | None | None | None | N | 0.488188472 | None | None | N |
| K/S | 0.8394 | likely_pathogenic | 0.7691 | pathogenic | -0.209 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.623 | likely_pathogenic | 0.5346 | ambiguous | -0.036 | Destabilizing | None | None | None | None | N | 0.497213387 | None | None | N |
| K/V | 0.8081 | likely_pathogenic | 0.7764 | pathogenic | 0.427 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9489 | likely_pathogenic | 0.9439 | pathogenic | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.9314 | likely_pathogenic | 0.9204 | pathogenic | 0.292 | Stabilizing | 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.