Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3074092443;92444;92445 chr2:178549408;178549407;178549406chr2:179414135;179414134;179414133
N2AB2909987520;87521;87522 chr2:178549408;178549407;178549406chr2:179414135;179414134;179414133
N2A2817284739;84740;84741 chr2:178549408;178549407;178549406chr2:179414135;179414134;179414133
N2B2167565248;65249;65250 chr2:178549408;178549407;178549406chr2:179414135;179414134;179414133
Novex-12180065623;65624;65625 chr2:178549408;178549407;178549406chr2:179414135;179414134;179414133
Novex-22186765824;65825;65826 chr2:178549408;178549407;178549406chr2:179414135;179414134;179414133
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: W
  • RefSeq wild type transcript codon: TGG
  • RefSeq wild type template codon: ACC
  • Domain: Fn3-112
  • Domain position: 22
  • Structural Position: 24
  • Q(SASA): 0.1069
  • 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
W/R None None 1.0 D 0.931 0.914 0.936591070797 gnomAD-4.0.0 1.59165E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43287E-05 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
W/A 0.9969 likely_pathogenic 0.9969 pathogenic -3.554 Highly Destabilizing 1.0 D 0.905 deleterious None None None None N
W/C 0.9983 likely_pathogenic 0.9983 pathogenic -2.067 Highly Destabilizing 1.0 D 0.867 deleterious D 0.696670281 None None N
W/D 0.9997 likely_pathogenic 0.9996 pathogenic -3.695 Highly Destabilizing 1.0 D 0.931 deleterious None None None None N
W/E 0.9997 likely_pathogenic 0.9997 pathogenic -3.579 Highly Destabilizing 1.0 D 0.906 deleterious None None None None N
W/F 0.6638 likely_pathogenic 0.6352 pathogenic -2.283 Highly Destabilizing 1.0 D 0.882 deleterious None None None None N
W/G 0.9878 likely_pathogenic 0.9871 pathogenic -3.795 Highly Destabilizing 1.0 D 0.854 deleterious D 0.696670281 None None N
W/H 0.9976 likely_pathogenic 0.9975 pathogenic -2.675 Highly Destabilizing 1.0 D 0.887 deleterious None None None None N
W/I 0.9949 likely_pathogenic 0.9945 pathogenic -2.612 Highly Destabilizing 1.0 D 0.924 deleterious None None None None N
W/K 0.9998 likely_pathogenic 0.9998 pathogenic -2.756 Highly Destabilizing 1.0 D 0.903 deleterious None None None None N
W/L 0.9839 likely_pathogenic 0.9846 pathogenic -2.612 Highly Destabilizing 1.0 D 0.854 deleterious D 0.679641899 None None N
W/M 0.9957 likely_pathogenic 0.9956 pathogenic -2.057 Highly Destabilizing 1.0 D 0.835 deleterious None None None None N
W/N 0.9997 likely_pathogenic 0.9997 pathogenic -3.44 Highly Destabilizing 1.0 D 0.935 deleterious None None None None N
W/P 0.9995 likely_pathogenic 0.9996 pathogenic -2.959 Highly Destabilizing 1.0 D 0.937 deleterious None None None None N
W/Q 0.9998 likely_pathogenic 0.9998 pathogenic -3.3 Highly Destabilizing 1.0 D 0.918 deleterious None None None None N
W/R 0.9993 likely_pathogenic 0.9994 pathogenic -2.377 Highly Destabilizing 1.0 D 0.931 deleterious D 0.696670281 None None N
W/S 0.9954 likely_pathogenic 0.9958 pathogenic -3.63 Highly Destabilizing 1.0 D 0.906 deleterious D 0.696670281 None None N
W/T 0.9979 likely_pathogenic 0.9978 pathogenic -3.441 Highly Destabilizing 1.0 D 0.891 deleterious None None None None N
W/V 0.9937 likely_pathogenic 0.9929 pathogenic -2.959 Highly Destabilizing 1.0 D 0.902 deleterious None None None None N
W/Y 0.9512 likely_pathogenic 0.9524 pathogenic -2.135 Highly Destabilizing 1.0 D 0.844 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.