Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC895727094;27095;27096 chr2:178713265;178713264;178713263chr2:179577992;179577991;179577990
N2AB864026143;26144;26145 chr2:178713265;178713264;178713263chr2:179577992;179577991;179577990
N2A771323362;23363;23364 chr2:178713265;178713264;178713263chr2:179577992;179577991;179577990
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Ig-75
  • Domain position: 32
  • Structural Position: 46
  • Q(SASA): 0.3239
  • 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
V/I rs1008014872 None 0.008 N 0.22 0.114 0.376921832658 gnomAD-3.1.2 4.6E-05 None None None None N None 1.69033E-04 0 0 0 0 None 0 0 0 0 0
V/I rs1008014872 None 0.008 N 0.22 0.114 0.376921832658 gnomAD-4.0.0 5.58425E-06 None None None None N None 1.20218E-04 0 None 0 0 None 0 0 0 0 0
V/L None None 0.156 D 0.584 0.445 0.400899426204 gnomAD-4.0.0 6.85124E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00276E-07 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
V/A 0.444 ambiguous 0.5137 ambiguous -1.439 Destabilizing 0.517 D 0.654 neutral D 0.576175082 None None N
V/C 0.8889 likely_pathogenic 0.9068 pathogenic -1.013 Destabilizing 0.996 D 0.721 prob.delet. None None None None N
V/D 0.9478 likely_pathogenic 0.964 pathogenic -0.973 Destabilizing 0.949 D 0.855 deleterious D 0.630581973 None None N
V/E 0.894 likely_pathogenic 0.9248 pathogenic -0.932 Destabilizing 0.961 D 0.837 deleterious None None None None N
V/F 0.3444 ambiguous 0.3584 ambiguous -1.037 Destabilizing 0.901 D 0.759 deleterious D 0.538362604 None None N
V/G 0.6837 likely_pathogenic 0.7361 pathogenic -1.808 Destabilizing 0.949 D 0.827 deleterious D 0.630581973 None None N
V/H 0.948 likely_pathogenic 0.9635 pathogenic -1.388 Destabilizing 0.996 D 0.833 deleterious None None None None N
V/I 0.0787 likely_benign 0.0771 benign -0.512 Destabilizing 0.008 N 0.22 neutral N 0.458068714 None None N
V/K 0.9047 likely_pathogenic 0.9327 pathogenic -1.085 Destabilizing 0.961 D 0.839 deleterious None None None None N
V/L 0.3181 likely_benign 0.3389 benign -0.512 Destabilizing 0.156 N 0.584 neutral D 0.538575127 None None N
V/M 0.2623 likely_benign 0.3078 benign -0.449 Destabilizing 0.923 D 0.655 neutral None None None None N
V/N 0.8661 likely_pathogenic 0.9012 pathogenic -0.918 Destabilizing 0.961 D 0.851 deleterious None None None None N
V/P 0.8984 likely_pathogenic 0.931 pathogenic -0.785 Destabilizing 0.987 D 0.841 deleterious None None None None N
V/Q 0.8824 likely_pathogenic 0.9068 pathogenic -0.995 Destabilizing 0.987 D 0.845 deleterious None None None None N
V/R 0.8752 likely_pathogenic 0.8953 pathogenic -0.718 Destabilizing 0.961 D 0.839 deleterious None None None None N
V/S 0.6849 likely_pathogenic 0.7408 pathogenic -1.534 Destabilizing 0.858 D 0.819 deleterious None None None None N
V/T 0.5058 ambiguous 0.5896 pathogenic -1.361 Destabilizing 0.096 N 0.413 neutral None None None None N
V/W 0.9561 likely_pathogenic 0.9674 pathogenic -1.26 Destabilizing 0.996 D 0.822 deleterious None None None None N
V/Y 0.8485 likely_pathogenic 0.8725 pathogenic -0.933 Destabilizing 0.961 D 0.737 prob.delet. 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.