Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1556246909;46910;46911 chr2:178619633;178619632;178619631chr2:179484360;179484359;179484358
N2AB1392141986;41987;41988 chr2:178619633;178619632;178619631chr2:179484360;179484359;179484358
N2A1299439205;39206;39207 chr2:178619633;178619632;178619631chr2:179484360;179484359;179484358
N2B649719714;19715;19716 chr2:178619633;178619632;178619631chr2:179484360;179484359;179484358
Novex-1662220089;20090;20091 chr2:178619633;178619632;178619631chr2:179484360;179484359;179484358
Novex-2668920290;20291;20292 chr2:178619633;178619632;178619631chr2:179484360;179484359;179484358
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: L
  • RefSeq wild type transcript codon: CTT
  • RefSeq wild type template codon: GAA
  • Domain: Ig-107
  • Domain position: 83
  • Structural Position: 174
  • Q(SASA): 0.0618
  • 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
L/F rs755020461 -1.844 1.0 D 0.753 0.519 0.708043090069 gnomAD-2.1.1 1.62E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.57E-05 0
L/F rs755020461 -1.844 1.0 D 0.753 0.519 0.708043090069 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/F rs755020461 -1.844 1.0 D 0.753 0.519 0.708043090069 gnomAD-4.0.0 3.10251E-06 None None None None N None 0 0 None 0 0 None 0 0 4.24209E-06 0 0
L/V rs755020461 None 0.999 D 0.58 0.452 0.627110788713 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/V rs755020461 None 0.999 D 0.58 0.452 0.627110788713 gnomAD-4.0.0 8.68702E-06 None None None None N None 0 0 None 0 0 None 0 0 1.18779E-05 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
L/A 0.9163 likely_pathogenic 0.9101 pathogenic -2.883 Highly Destabilizing 0.999 D 0.691 prob.neutral None None None None N
L/C 0.9242 likely_pathogenic 0.9338 pathogenic -2.007 Highly Destabilizing 1.0 D 0.791 deleterious None None None None N
L/D 0.9995 likely_pathogenic 0.9993 pathogenic -3.606 Highly Destabilizing 1.0 D 0.81 deleterious None None None None N
L/E 0.9962 likely_pathogenic 0.995 pathogenic -3.273 Highly Destabilizing 1.0 D 0.817 deleterious None None None None N
L/F 0.8279 likely_pathogenic 0.808 pathogenic -1.753 Destabilizing 1.0 D 0.753 deleterious D 0.638875471 None None N
L/G 0.9871 likely_pathogenic 0.985 pathogenic -3.505 Highly Destabilizing 1.0 D 0.807 deleterious None None None None N
L/H 0.9939 likely_pathogenic 0.9931 pathogenic -3.207 Highly Destabilizing 1.0 D 0.808 deleterious D 0.643544881 None None N
L/I 0.2179 likely_benign 0.2281 benign -1.0 Destabilizing 0.999 D 0.569 neutral D 0.636926397 None None N
L/K 0.9928 likely_pathogenic 0.99 pathogenic -2.234 Highly Destabilizing 1.0 D 0.793 deleterious None None None None N
L/M 0.4035 ambiguous 0.3946 ambiguous -1.132 Destabilizing 1.0 D 0.741 deleterious None None None None N
L/N 0.9962 likely_pathogenic 0.9947 pathogenic -2.987 Highly Destabilizing 1.0 D 0.812 deleterious None None None None N
L/P 0.9959 likely_pathogenic 0.995 pathogenic -1.62 Destabilizing 1.0 D 0.811 deleterious D 0.643544881 None None N
L/Q 0.9876 likely_pathogenic 0.985 pathogenic -2.614 Highly Destabilizing 1.0 D 0.811 deleterious None None None None N
L/R 0.9833 likely_pathogenic 0.9814 pathogenic -2.296 Highly Destabilizing 1.0 D 0.815 deleterious D 0.642716894 None None N
L/S 0.9939 likely_pathogenic 0.9932 pathogenic -3.534 Highly Destabilizing 1.0 D 0.789 deleterious None None None None N
L/T 0.956 likely_pathogenic 0.9482 pathogenic -3.032 Highly Destabilizing 1.0 D 0.739 prob.delet. None None None None N
L/V 0.246 likely_benign 0.2853 benign -1.62 Destabilizing 0.999 D 0.58 neutral D 0.588174689 None None N
L/W 0.9793 likely_pathogenic 0.9774 pathogenic -2.169 Highly Destabilizing 1.0 D 0.789 deleterious None None None None N
L/Y 0.9788 likely_pathogenic 0.9762 pathogenic -1.969 Destabilizing 1.0 D 0.813 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.