Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3090192926;92927;92928 chr2:178548925;178548924;178548923chr2:179413652;179413651;179413650
N2AB2926088003;88004;88005 chr2:178548925;178548924;178548923chr2:179413652;179413651;179413650
N2A2833385222;85223;85224 chr2:178548925;178548924;178548923chr2:179413652;179413651;179413650
N2B2183665731;65732;65733 chr2:178548925;178548924;178548923chr2:179413652;179413651;179413650
Novex-12196166106;66107;66108 chr2:178548925;178548924;178548923chr2:179413652;179413651;179413650
Novex-22202866307;66308;66309 chr2:178548925;178548924;178548923chr2:179413652;179413651;179413650
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGT
  • RefSeq wild type template codon: CCA
  • Domain: Fn3-113
  • Domain position: 81
  • Structural Position: 113
  • Q(SASA): 0.5063
  • Predicted PPI site: I

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
G/D rs879214233 None 0.468 N 0.557 0.205 0.16115917748 gnomAD-3.1.2 1.31E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
G/D rs879214233 None 0.468 N 0.557 0.205 0.16115917748 gnomAD-4.0.0 1.31435E-05 None None None None I None 4.82625E-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
G/A 0.0743 likely_benign 0.0852 benign -0.378 Destabilizing 0.002 N 0.381 neutral N 0.396926176 None None I
G/C 0.1343 likely_benign 0.1626 benign -0.88 Destabilizing 0.931 D 0.691 prob.neutral N 0.47998749 None None I
G/D 0.2714 likely_benign 0.3212 benign -0.851 Destabilizing 0.468 N 0.557 neutral N 0.42563293 None None I
G/E 0.2132 likely_benign 0.263 benign -1.011 Destabilizing 0.539 D 0.63 neutral None None None None I
G/F 0.4301 ambiguous 0.4803 ambiguous -1.054 Destabilizing 0.826 D 0.68 prob.neutral None None None None I
G/H 0.3054 likely_benign 0.3569 ambiguous -0.625 Destabilizing 0.947 D 0.641 neutral None None None None I
G/I 0.1622 likely_benign 0.1883 benign -0.474 Destabilizing 0.045 N 0.536 neutral None None None None I
G/K 0.3054 likely_benign 0.351 ambiguous -1.02 Destabilizing 0.539 D 0.629 neutral None None None None I
G/L 0.2588 likely_benign 0.3059 benign -0.474 Destabilizing 0.25 N 0.591 neutral None None None None I
G/M 0.2937 likely_benign 0.3378 benign -0.466 Destabilizing 0.947 D 0.662 neutral None None None None I
G/N 0.2485 likely_benign 0.2923 benign -0.631 Destabilizing 0.539 D 0.521 neutral None None None None I
G/P 0.653 likely_pathogenic 0.6817 pathogenic -0.408 Destabilizing 0.7 D 0.631 neutral None None None None I
G/Q 0.2514 likely_benign 0.2944 benign -0.94 Destabilizing 0.7 D 0.637 neutral None None None None I
G/R 0.1971 likely_benign 0.2282 benign -0.498 Destabilizing 0.638 D 0.643 neutral N 0.437562077 None None I
G/S 0.0827 likely_benign 0.0934 benign -0.752 Destabilizing 0.004 N 0.291 neutral N 0.373281312 None None I
G/T 0.1132 likely_benign 0.1309 benign -0.849 Destabilizing 0.539 D 0.533 neutral None None None None I
G/V 0.1145 likely_benign 0.1334 benign -0.408 Destabilizing 0.201 N 0.596 neutral N 0.440698383 None None I
G/W 0.3534 ambiguous 0.386 ambiguous -1.22 Destabilizing 0.982 D 0.695 prob.neutral None None None None I
G/Y 0.3267 likely_benign 0.3736 ambiguous -0.882 Destabilizing 0.947 D 0.675 neutral None None None None I

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.