Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC34112102559;102560;102561 chr2:178534281;178534280;178534279chr2:179399008;179399007;179399006
N2AB3247197636;97637;97638 chr2:178534281;178534280;178534279chr2:179399008;179399007;179399006
N2A3154494855;94856;94857 chr2:178534281;178534280;178534279chr2:179399008;179399007;179399006
N2B2504775364;75365;75366 chr2:178534281;178534280;178534279chr2:179399008;179399007;179399006
Novex-12517275739;75740;75741 chr2:178534281;178534280;178534279chr2:179399008;179399007;179399006
Novex-22523975940;75941;75942 chr2:178534281;178534280;178534279chr2:179399008;179399007;179399006
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCC
  • RefSeq wild type template codon: AGG
  • Domain: Kinase-1
  • Domain position: 300
  • Q(SASA): 0.0704
  • 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
S/A rs889518198 None None N None 0.109 0.226586394389 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
S/A rs889518198 None None N None 0.109 0.226586394389 gnomAD-4.0.0 1.23931E-06 None None None None N None 0 0 None 0 0 None 0 0 1.69513E-06 0 0
S/F rs1252666695 -0.925 None N None 0.448 0.692499368407 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
S/F rs1252666695 -0.925 None N None 0.448 0.692499368407 gnomAD-4.0.0 1.59114E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85783E-06 0 0
S/P None None None N None 0.256 0.448300063881 gnomAD-4.0.0 6.84182E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99426E-07 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
S/A 0.1049 likely_benign 0.1068 benign -0.655 Destabilizing None None None None N 0.394099301 None None N
S/C 0.1429 likely_benign 0.1451 benign -1.03 Destabilizing None None None None N 0.42840945 None None N
S/D 0.9264 likely_pathogenic 0.9066 pathogenic -1.91 Destabilizing None None None None None None None None N
S/E 0.9366 likely_pathogenic 0.9233 pathogenic -1.837 Destabilizing None None None None None None None None N
S/F 0.673 likely_pathogenic 0.6254 pathogenic -0.92 Destabilizing None None None None N 0.428062733 None None N
S/G 0.2072 likely_benign 0.2187 benign -0.9 Destabilizing None None None None None None None None N
S/H 0.7868 likely_pathogenic 0.771 pathogenic -1.303 Destabilizing None None None None None None None None N
S/I 0.5715 likely_pathogenic 0.5435 ambiguous -0.093 Destabilizing None None None None None None None None N
S/K 0.9764 likely_pathogenic 0.9687 pathogenic -0.677 Destabilizing None None None None None None None None N
S/L 0.356 ambiguous 0.3355 benign -0.093 Destabilizing None None None None None None None None N
S/M 0.5842 likely_pathogenic 0.5708 pathogenic 0.007 Stabilizing None None None None None None None None N
S/N 0.5527 ambiguous 0.568 pathogenic -1.168 Destabilizing None None None None None None None None N
S/P 0.6268 likely_pathogenic 0.5844 pathogenic -0.249 Destabilizing None None None None N 0.428062733 None None N
S/Q 0.8649 likely_pathogenic 0.8538 pathogenic -1.324 Destabilizing None None None None None None None None N
S/R 0.9462 likely_pathogenic 0.9304 pathogenic -0.566 Destabilizing None None None None None None None None N
S/T 0.2306 likely_benign 0.23 benign -0.893 Destabilizing None None None None N 0.427195942 None None N
S/V 0.4968 ambiguous 0.484 ambiguous -0.249 Destabilizing None None None None None None None None N
S/W 0.8341 likely_pathogenic 0.8255 pathogenic -1.067 Destabilizing None None None None None None None None N
S/Y 0.6095 likely_pathogenic 0.5736 pathogenic -0.652 Destabilizing None None None None N 0.427889375 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.