Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2196066103;66104;66105 chr2:178582578;178582577;178582576chr2:179447305;179447304;179447303
N2AB2031961180;61181;61182 chr2:178582578;178582577;178582576chr2:179447305;179447304;179447303
N2A1939258399;58400;58401 chr2:178582578;178582577;178582576chr2:179447305;179447304;179447303
N2B1289538908;38909;38910 chr2:178582578;178582577;178582576chr2:179447305;179447304;179447303
Novex-11302039283;39284;39285 chr2:178582578;178582577;178582576chr2:179447305;179447304;179447303
Novex-21308739484;39485;39486 chr2:178582578;178582577;178582576chr2:179447305;179447304;179447303
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCA
  • RefSeq wild type template codon: GGT
  • Domain: Fn3-47
  • Domain position: 5
  • Structural Position: 5
  • Q(SASA): 0.1102
  • 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
P/L None None 0.025 D 0.775 0.576 0.589785090976 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31252E-06 0 0
P/T None None 0.967 D 0.827 0.624 0.543299242062 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31252E-06 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
P/A 0.6642 likely_pathogenic 0.5177 ambiguous -2.05 Highly Destabilizing 0.805 D 0.785 deleterious D 0.527192255 None None N
P/C 0.895 likely_pathogenic 0.8495 pathogenic -1.707 Destabilizing 0.999 D 0.885 deleterious None None None None N
P/D 0.9994 likely_pathogenic 0.9989 pathogenic -3.231 Highly Destabilizing 0.996 D 0.833 deleterious None None None None N
P/E 0.9975 likely_pathogenic 0.9959 pathogenic -2.949 Highly Destabilizing 0.987 D 0.839 deleterious None None None None N
P/F 0.999 likely_pathogenic 0.9979 pathogenic -1.017 Destabilizing 0.975 D 0.901 deleterious None None None None N
P/G 0.9915 likely_pathogenic 0.9843 pathogenic -2.62 Highly Destabilizing 0.987 D 0.858 deleterious None None None None N
P/H 0.9984 likely_pathogenic 0.9967 pathogenic -2.582 Highly Destabilizing 0.999 D 0.862 deleterious None None None None N
P/I 0.8447 likely_pathogenic 0.772 pathogenic -0.411 Destabilizing 0.845 D 0.883 deleterious None None None None N
P/K 0.9989 likely_pathogenic 0.9981 pathogenic -1.681 Destabilizing 0.987 D 0.825 deleterious None None None None N
P/L 0.9108 likely_pathogenic 0.8278 pathogenic -0.411 Destabilizing 0.025 N 0.775 deleterious D 0.555892347 None None N
P/M 0.9772 likely_pathogenic 0.9562 pathogenic -0.752 Destabilizing 0.993 D 0.883 deleterious None None None None N
P/N 0.9985 likely_pathogenic 0.9971 pathogenic -2.247 Highly Destabilizing 0.996 D 0.873 deleterious None None None None N
P/Q 0.996 likely_pathogenic 0.9924 pathogenic -1.954 Destabilizing 0.994 D 0.808 deleterious D 0.569023079 None None N
P/R 0.9968 likely_pathogenic 0.994 pathogenic -1.723 Destabilizing 0.983 D 0.873 deleterious D 0.5685161 None None N
P/S 0.9724 likely_pathogenic 0.9418 pathogenic -2.736 Highly Destabilizing 0.983 D 0.821 deleterious D 0.557413284 None None N
P/T 0.8846 likely_pathogenic 0.8039 pathogenic -2.312 Highly Destabilizing 0.967 D 0.827 deleterious D 0.556652816 None None N
P/V 0.4954 ambiguous 0.4257 ambiguous -0.937 Destabilizing 0.073 N 0.74 deleterious None None None None N
P/W 0.9999 likely_pathogenic 0.9998 pathogenic -1.693 Destabilizing 0.999 D 0.854 deleterious None None None None N
P/Y 0.9997 likely_pathogenic 0.9993 pathogenic -1.314 Destabilizing 0.987 D 0.91 deleterious 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.