Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34127 | 102604;102605;102606 | chr2:178534236;178534235;178534234 | chr2:179398963;179398962;179398961 |
| N2AB | 32486 | 97681;97682;97683 | chr2:178534236;178534235;178534234 | chr2:179398963;179398962;179398961 |
| N2A | 31559 | 94900;94901;94902 | chr2:178534236;178534235;178534234 | chr2:179398963;179398962;179398961 |
| N2B | 25062 | 75409;75410;75411 | chr2:178534236;178534235;178534234 | chr2:179398963;179398962;179398961 |
| Novex-1 | 25187 | 75784;75785;75786 | chr2:178534236;178534235;178534234 | chr2:179398963;179398962;179398961 |
| Novex-2 | 25254 | 75985;75986;75987 | chr2:178534236;178534235;178534234 | chr2:179398963;179398962;179398961 |
| 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: 315
- Q(SASA): 0.5424
- 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 | rs1327804969  |
None | None | N | None | 0.374 | 0.322786055943 | 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/E | rs1327804969 |
None | None | N | None | 0.374 | 0.322786055943 | gnomAD-4.0.0 | 3.04471E-06 | None | None | None | None | N | None | 3.49394E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2049E-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 | 0.6878 | likely_pathogenic | 0.6587 | pathogenic | -0.069 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.9325 | likely_pathogenic | 0.924 | pathogenic | -0.157 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.842 | likely_pathogenic | 0.8127 | pathogenic | 0.025 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.5823 | likely_pathogenic | 0.5408 | ambiguous | 0.071 | Stabilizing | None | None | None | None | N | 0.457172132 | None | None | N |
| K/F | 0.9729 | likely_pathogenic | 0.9585 | pathogenic | -0.006 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.734 | likely_pathogenic | 0.7361 | pathogenic | -0.339 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.6287 | likely_pathogenic | 0.63 | pathogenic | -0.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.8395 | likely_pathogenic | 0.802 | pathogenic | 0.585 | Stabilizing | None | None | None | None | N | 0.459252432 | None | None | N |
| K/L | 0.7844 | likely_pathogenic | 0.7714 | pathogenic | 0.585 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.6887 | likely_pathogenic | 0.6789 | pathogenic | 0.259 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/N | 0.7351 | likely_pathogenic | 0.7412 | pathogenic | 0.109 | Stabilizing | None | None | None | None | N | 0.457865565 | None | None | N |
| K/P | 0.8239 | likely_pathogenic | 0.809 | pathogenic | 0.396 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.3719 | ambiguous | 0.4086 | ambiguous | 0.003 | Stabilizing | None | None | None | None | N | 0.458038924 | None | None | N |
| K/R | 0.1077 | likely_benign | 0.1236 | benign | -0.214 | Destabilizing | None | None | None | None | N | 0.458038924 | None | None | N |
| K/S | 0.7519 | likely_pathogenic | 0.7332 | pathogenic | -0.372 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.5283 | ambiguous | 0.4913 | ambiguous | -0.161 | Destabilizing | None | None | None | None | N | 0.458212282 | None | None | N |
| K/V | 0.7679 | likely_pathogenic | 0.7263 | pathogenic | 0.396 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9595 | likely_pathogenic | 0.9458 | pathogenic | -0.003 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.9246 | likely_pathogenic | 0.9055 | pathogenic | 0.304 | 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.