Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33842 | 101749;101750;101751 | chr2:178535091;178535090;178535089 | chr2:179399818;179399817;179399816 |
| N2AB | 32201 | 96826;96827;96828 | chr2:178535091;178535090;178535089 | chr2:179399818;179399817;179399816 |
| N2A | 31274 | 94045;94046;94047 | chr2:178535091;178535090;178535089 | chr2:179399818;179399817;179399816 |
| N2B | 24777 | 74554;74555;74556 | chr2:178535091;178535090;178535089 | chr2:179399818;179399817;179399816 |
| Novex-1 | 24902 | 74929;74930;74931 | chr2:178535091;178535090;178535089 | chr2:179399818;179399817;179399816 |
| Novex-2 | 24969 | 75130;75131;75132 | chr2:178535091;178535090;178535089 | chr2:179399818;179399817;179399816 |
| 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: 30
- Q(SASA): 0.6369
- 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 | rs2154136431  |
None | None | N | None | 0.173 | 0.180583059064 | 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 | rs2154136431 |
None | None | N | None | 0.173 | 0.180583059064 | gnomAD-4.0.0 | 6.56573E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47024E-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 | 0.607 | likely_pathogenic | 0.4706 | ambiguous | -0.097 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.8437 | likely_pathogenic | 0.7634 | pathogenic | -0.269 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.6685 | likely_pathogenic | 0.5253 | ambiguous | 0.239 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.2567 | likely_benign | 0.1633 | benign | 0.248 | Stabilizing | None | None | None | None | N | 0.480970845 | None | None | N |
| K/F | 0.9396 | likely_pathogenic | 0.8848 | pathogenic | -0.328 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.4517 | ambiguous | 0.3224 | benign | -0.305 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.5172 | ambiguous | 0.4069 | ambiguous | -0.639 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.7917 | likely_pathogenic | 0.6805 | pathogenic | 0.372 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/L | 0.6416 | likely_pathogenic | 0.5394 | ambiguous | 0.372 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.5506 | ambiguous | 0.4209 | ambiguous | 0.306 | Stabilizing | None | None | None | None | N | 0.461100618 | None | None | N |
| K/N | 0.5619 | ambiguous | 0.3966 | ambiguous | 0.214 | Stabilizing | None | None | None | None | N | 0.432619538 | None | None | N |
| K/P | 0.838 | likely_pathogenic | 0.8112 | pathogenic | 0.244 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.1877 | likely_benign | 0.1359 | benign | -0.005 | Destabilizing | None | None | None | None | N | 0.471351285 | None | None | N |
| K/R | 0.0945 | likely_benign | 0.0874 | benign | -0.004 | Destabilizing | None | None | None | None | N | 0.468927055 | None | None | N |
| K/S | 0.5662 | likely_pathogenic | 0.4231 | ambiguous | -0.372 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.4426 | ambiguous | 0.321 | benign | -0.207 | Destabilizing | None | None | None | None | N | 0.500519398 | None | None | N |
| K/V | 0.7128 | likely_pathogenic | 0.6116 | pathogenic | 0.244 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9205 | likely_pathogenic | 0.868 | pathogenic | -0.279 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.8602 | likely_pathogenic | 0.7708 | pathogenic | 0.082 | 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.