Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34074 | 102445;102446;102447 | chr2:178534395;178534394;178534393 | chr2:179399122;179399121;179399120 |
| N2AB | 32433 | 97522;97523;97524 | chr2:178534395;178534394;178534393 | chr2:179399122;179399121;179399120 |
| N2A | 31506 | 94741;94742;94743 | chr2:178534395;178534394;178534393 | chr2:179399122;179399121;179399120 |
| N2B | 25009 | 75250;75251;75252 | chr2:178534395;178534394;178534393 | chr2:179399122;179399121;179399120 |
| Novex-1 | 25134 | 75625;75626;75627 | chr2:178534395;178534394;178534393 | chr2:179399122;179399121;179399120 |
| Novex-2 | 25201 | 75826;75827;75828 | chr2:178534395;178534394;178534393 | chr2:179399122;179399121;179399120 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: K
- RefSeq wild type transcript codon: AAG
- RefSeq wild type template codon: TTC
- Domain: Kinase-1
- Domain position: 262
- Q(SASA): 0.3613
- 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 | rs748885900  |
0.047 | None | N | None | 0.109 | 0.104622674875 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs748885900 |
0.047 | None | N | None | 0.109 | 0.104622674875 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs748885900 |
0.047 | None | N | None | 0.109 | 0.104622674875 | gnomAD-4.0.0 | 2.57237E-06 | None | None | None | None | N | None | 3.38249E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | None | None | None | N | None | 0.082 | 0.115124310173 | gnomAD-4.0.0 | 6.8564E-07 | None | None | None | None | N | None | 2.98811E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5662 | likely_pathogenic | 0.5671 | pathogenic | -0.195 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.7962 | likely_pathogenic | 0.8119 | pathogenic | -0.199 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.8402 | likely_pathogenic | 0.8495 | pathogenic | -0.01 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.3401 | ambiguous | 0.3473 | ambiguous | 0.032 | Stabilizing | None | None | None | None | N | 0.428099153 | None | None | N |
| K/F | 0.8778 | likely_pathogenic | 0.8686 | pathogenic | -0.152 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.653 | likely_pathogenic | 0.6711 | pathogenic | -0.482 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.4503 | ambiguous | 0.4734 | ambiguous | -0.882 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.5196 | ambiguous | 0.5254 | ambiguous | 0.507 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/L | 0.4486 | ambiguous | 0.4751 | ambiguous | 0.507 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.3824 | ambiguous | 0.4074 | ambiguous | 0.411 | Stabilizing | None | None | None | None | N | 0.429659378 | None | None | N |
| K/N | 0.6549 | likely_pathogenic | 0.6894 | pathogenic | -0.017 | Destabilizing | None | None | None | None | N | 0.428965944 | None | None | N |
| K/P | 0.951 | likely_pathogenic | 0.9525 | pathogenic | 0.304 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.1688 | likely_benign | 0.1871 | benign | -0.181 | Destabilizing | None | None | None | None | N | 0.428445869 | None | None | N |
| K/R | 0.1022 | likely_benign | 0.1036 | benign | -0.362 | Destabilizing | None | None | None | None | N | 0.428099153 | None | None | N |
| K/S | 0.6287 | likely_pathogenic | 0.645 | pathogenic | -0.565 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.3352 | likely_benign | 0.3489 | ambiguous | -0.352 | Destabilizing | None | None | None | None | N | 0.409513392 | None | None | N |
| K/V | 0.5256 | ambiguous | 0.5354 | ambiguous | 0.304 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.878 | likely_pathogenic | 0.8734 | pathogenic | -0.091 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.7706 | likely_pathogenic | 0.7699 | pathogenic | 0.217 | 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.