Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33956 | 102091;102092;102093 | chr2:178534749;178534748;178534747 | chr2:179399476;179399475;179399474 |
| N2AB | 32315 | 97168;97169;97170 | chr2:178534749;178534748;178534747 | chr2:179399476;179399475;179399474 |
| N2A | 31388 | 94387;94388;94389 | chr2:178534749;178534748;178534747 | chr2:179399476;179399475;179399474 |
| N2B | 24891 | 74896;74897;74898 | chr2:178534749;178534748;178534747 | chr2:179399476;179399475;179399474 |
| Novex-1 | 25016 | 75271;75272;75273 | chr2:178534749;178534748;178534747 | chr2:179399476;179399475;179399474 |
| Novex-2 | 25083 | 75472;75473;75474 | chr2:178534749;178534748;178534747 | chr2:179399476;179399475;179399474 |
| 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: 144
- Q(SASA): 0.1035
- 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 | None | None | None | N | None | 0.595 | 0.349647731962 | gnomAD-4.0.0 | 6.84214E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 0 | 0 |
| K/Q | rs1690684721  |
None | None | N | None | 0.573 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs1690684721 |
None | None | N | None | 0.573 | None | gnomAD-4.0.0 | 3.71808E-06 | None | None | None | None | N | None | 6.67396E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60113E-05 |
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 | 0.9152 | likely_pathogenic | 0.8951 | pathogenic | -1.498 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.9441 | likely_pathogenic | 0.9362 | pathogenic | -1.796 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.9738 | likely_pathogenic | 0.965 | pathogenic | -2.171 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.8328 | likely_pathogenic | 0.8088 | pathogenic | -1.902 | Destabilizing | None | None | None | None | N | 0.514480283 | None | None | N |
| K/F | 0.9863 | likely_pathogenic | 0.9871 | pathogenic | -0.697 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.954 | likely_pathogenic | 0.9394 | pathogenic | -1.932 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.7327 | likely_pathogenic | 0.7037 | pathogenic | -2.222 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.9224 | likely_pathogenic | 0.9199 | pathogenic | -0.276 | Destabilizing | None | None | None | None | N | 0.494045397 | None | None | N |
| K/L | 0.9047 | likely_pathogenic | 0.8961 | pathogenic | -0.276 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.8472 | likely_pathogenic | 0.8314 | pathogenic | -0.753 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/N | 0.9296 | likely_pathogenic | 0.9173 | pathogenic | -2.166 | Highly Destabilizing | None | None | None | None | N | 0.519506712 | None | None | N |
| K/P | 0.9844 | likely_pathogenic | 0.9825 | pathogenic | -0.663 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.6034 | likely_pathogenic | 0.5336 | ambiguous | -1.767 | Destabilizing | None | None | None | None | N | 0.501148968 | None | None | N |
| K/R | 0.2055 | likely_benign | 0.1867 | benign | -1.779 | Destabilizing | None | None | None | None | N | 0.476421667 | None | None | N |
| K/S | 0.9174 | likely_pathogenic | 0.9004 | pathogenic | -2.551 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.7433 | likely_pathogenic | 0.7369 | pathogenic | -2.058 | Highly Destabilizing | None | None | None | None | N | 0.507389938 | None | None | N |
| K/V | 0.8847 | likely_pathogenic | 0.8814 | pathogenic | -0.663 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9829 | likely_pathogenic | 0.9787 | pathogenic | -0.914 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.9549 | likely_pathogenic | 0.9543 | pathogenic | -0.551 | 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.