Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2668780284;80285;80286 chr2:178566073;178566072;178566071chr2:179430800;179430799;179430798
N2AB2504675361;75362;75363 chr2:178566073;178566072;178566071chr2:179430800;179430799;179430798
N2A2411972580;72581;72582 chr2:178566073;178566072;178566071chr2:179430800;179430799;179430798
N2B1762253089;53090;53091 chr2:178566073;178566072;178566071chr2:179430800;179430799;179430798
Novex-11774753464;53465;53466 chr2:178566073;178566072;178566071chr2:179430800;179430799;179430798
Novex-21781453665;53666;53667 chr2:178566073;178566072;178566071chr2:179430800;179430799;179430798
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: Fn3-82
  • Domain position: 5
  • Structural Position: 5
  • Q(SASA): 0.0953
  • 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/Q None None 1.0 D 0.897 0.755 0.620070164782 gnomAD-4.0.0 1.36855E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99556E-07 0 1.657E-05
P/S None None 0.999 D 0.865 0.714 0.587297536726 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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 0.4073 ambiguous 0.4422 ambiguous -2.311 Highly Destabilizing 0.982 D 0.82 deleterious D 0.588851262 None None N
P/C 0.5722 likely_pathogenic 0.6052 pathogenic -1.891 Destabilizing 1.0 D 0.929 deleterious None None None None N
P/D 0.9992 likely_pathogenic 0.9993 pathogenic -3.269 Highly Destabilizing 0.993 D 0.881 deleterious None None None None N
P/E 0.9965 likely_pathogenic 0.9968 pathogenic -2.998 Highly Destabilizing 0.996 D 0.881 deleterious None None None None N
P/F 0.9967 likely_pathogenic 0.9965 pathogenic -1.091 Destabilizing 1.0 D 0.945 deleterious None None None None N
P/G 0.9729 likely_pathogenic 0.9795 pathogenic -2.832 Highly Destabilizing 0.999 D 0.914 deleterious None None None None N
P/H 0.9955 likely_pathogenic 0.9957 pathogenic -2.63 Highly Destabilizing 1.0 D 0.929 deleterious None None None None N
P/I 0.5843 likely_pathogenic 0.5784 pathogenic -0.799 Destabilizing 0.984 D 0.803 deleterious None None None None N
P/K 0.9983 likely_pathogenic 0.9984 pathogenic -1.857 Destabilizing 1.0 D 0.879 deleterious None None None None N
P/L 0.677 likely_pathogenic 0.6753 pathogenic -0.799 Destabilizing 0.998 D 0.892 deleterious D 0.634325174 None None N
P/M 0.9192 likely_pathogenic 0.9287 pathogenic -1.18 Destabilizing 1.0 D 0.941 deleterious None None None None N
P/N 0.9955 likely_pathogenic 0.9963 pathogenic -2.397 Highly Destabilizing 0.999 D 0.933 deleterious None None None None N
P/Q 0.9901 likely_pathogenic 0.9905 pathogenic -2.1 Highly Destabilizing 1.0 D 0.897 deleterious D 0.624806423 None None N
P/R 0.9937 likely_pathogenic 0.9932 pathogenic -1.836 Destabilizing 1.0 D 0.938 deleterious D 0.634526978 None None N
P/S 0.9062 likely_pathogenic 0.921 pathogenic -2.859 Highly Destabilizing 0.999 D 0.865 deleterious D 0.624806423 None None N
P/T 0.6924 likely_pathogenic 0.7198 pathogenic -2.464 Highly Destabilizing 0.997 D 0.863 deleterious D 0.608988866 None None N
P/V 0.2797 likely_benign 0.2995 benign -1.287 Destabilizing 0.991 D 0.861 deleterious None None None None N
P/W 0.9996 likely_pathogenic 0.9995 pathogenic -1.687 Destabilizing 1.0 D 0.912 deleterious None None None None N
P/Y 0.9989 likely_pathogenic 0.9988 pathogenic -1.432 Destabilizing 1.0 D 0.949 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.