Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33843 | 101752;101753;101754 | chr2:178535088;178535087;178535086 | chr2:179399815;179399814;179399813 |
| N2AB | 32202 | 96829;96830;96831 | chr2:178535088;178535087;178535086 | chr2:179399815;179399814;179399813 |
| N2A | 31275 | 94048;94049;94050 | chr2:178535088;178535087;178535086 | chr2:179399815;179399814;179399813 |
| N2B | 24778 | 74557;74558;74559 | chr2:178535088;178535087;178535086 | chr2:179399815;179399814;179399813 |
| Novex-1 | 24903 | 74932;74933;74934 | chr2:178535088;178535087;178535086 | chr2:179399815;179399814;179399813 |
| Novex-2 | 24970 | 75133;75134;75135 | chr2:178535088;178535087;178535086 | chr2:179399815;179399814;179399813 |
| 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: 31
- Q(SASA): 0.3053
- 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 | rs377406091  |
-0.354 | None | D | None | 0.234 | 0.236278675362 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| K/N | rs377406091 |
-0.354 | None | D | None | 0.234 | 0.236278675362 | 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/N | rs377406091 |
-0.354 | None | D | None | 0.234 | 0.236278675362 | gnomAD-4.0.0 | 7.68634E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43559E-05 | 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 | 0.708 | likely_pathogenic | 0.6394 | pathogenic | -0.352 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.8993 | likely_pathogenic | 0.8791 | pathogenic | -0.404 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.7836 | likely_pathogenic | 0.764 | pathogenic | 0.026 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.4337 | ambiguous | 0.3858 | ambiguous | 0.117 | Stabilizing | None | None | None | None | N | 0.480627782 | None | None | N |
| K/F | 0.9377 | likely_pathogenic | 0.9136 | pathogenic | -0.162 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.7541 | likely_pathogenic | 0.7536 | pathogenic | -0.665 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.5758 | likely_pathogenic | 0.5292 | ambiguous | -0.857 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.6731 | likely_pathogenic | 0.5801 | pathogenic | 0.435 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/L | 0.6392 | likely_pathogenic | 0.5727 | pathogenic | 0.435 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.4673 | ambiguous | 0.3901 | ambiguous | 0.093 | Stabilizing | None | None | None | None | N | 0.496292301 | None | None | N |
| K/N | 0.6108 | likely_pathogenic | 0.5489 | ambiguous | -0.212 | Destabilizing | None | None | None | None | D | 0.526709575 | None | None | N |
| K/P | 0.9537 | likely_pathogenic | 0.956 | pathogenic | 0.202 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.2893 | likely_benign | 0.2523 | benign | -0.239 | Destabilizing | None | None | None | None | N | 0.468565348 | None | None | N |
| K/R | 0.1282 | likely_benign | 0.1229 | benign | -0.311 | Destabilizing | None | None | None | None | N | 0.478243624 | None | None | N |
| K/S | 0.7629 | likely_pathogenic | 0.72 | pathogenic | -0.761 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.4643 | ambiguous | 0.3882 | ambiguous | -0.478 | Destabilizing | None | None | None | None | N | 0.515761863 | None | None | N |
| K/V | 0.6324 | likely_pathogenic | 0.5505 | ambiguous | 0.202 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.946 | likely_pathogenic | 0.9294 | pathogenic | -0.125 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.8367 | likely_pathogenic | 0.7864 | pathogenic | 0.167 | 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.