Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC11573694;3695;3696 chr2:178781175;178781174;178781173chr2:179645902;179645901;179645900
N2AB11573694;3695;3696 chr2:178781175;178781174;178781173chr2:179645902;179645901;179645900
N2A11573694;3695;3696 chr2:178781175;178781174;178781173chr2:179645902;179645901;179645900
N2B11113556;3557;3558 chr2:178781175;178781174;178781173chr2:179645902;179645901;179645900
Novex-111113556;3557;3558 chr2:178781175;178781174;178781173chr2:179645902;179645901;179645900
Novex-211113556;3557;3558 chr2:178781175;178781174;178781173chr2:179645902;179645901;179645900
Novex-311573694;3695;3696 chr2:178781175;178781174;178781173chr2:179645902;179645901;179645900

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Ig-4
  • Domain position: 76
  • Structural Position: 157
  • Q(SASA): 0.0983
  • 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/A rs1266730376 -2.174 0.656 N 0.659 0.37 0.734822152697 gnomAD-2.1.1 3.98E-06 None None None None N None 0 2.89E-05 None 0 0 None 0 None 0 0 0
V/A rs1266730376 -2.174 0.656 N 0.659 0.37 0.734822152697 gnomAD-4.0.0 1.59073E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
V/I rs397517566 -0.261 0.014 N 0.237 0.109 None gnomAD-2.1.1 6.02E-05 None None None None N None 0 2.82E-05 None 0 5.03E-05 None 3.27E-05 None 0 1.08605E-04 0
V/I rs397517566 -0.261 0.014 N 0.237 0.109 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 5.88E-05 0 4.77555E-04
V/I rs397517566 -0.261 0.014 N 0.237 0.109 None gnomAD-4.0.0 4.21339E-05 None None None None N None 0 5.00083E-05 None 0 2.22946E-05 None 0 3.28839E-04 3.64418E-05 1.53714E-04 8.00205E-05
V/L rs397517566 -0.264 0.125 N 0.462 0.221 0.600074432338 gnomAD-2.1.1 3.98E-06 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 0 0
V/L rs397517566 -0.264 0.125 N 0.462 0.221 0.600074432338 gnomAD-3.1.2 1.31E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
V/L rs397517566 -0.264 0.125 N 0.462 0.221 0.600074432338 gnomAD-4.0.0 1.85885E-06 None None None None N None 4.00427E-05 0 None 0 0 None 0 0 0 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 0.5394 ambiguous 0.4937 ambiguous -1.96 Destabilizing 0.656 D 0.659 neutral N 0.506945426 None None N
V/C 0.934 likely_pathogenic 0.9225 pathogenic -1.28 Destabilizing 0.998 D 0.765 deleterious None None None None N
V/D 0.9451 likely_pathogenic 0.9226 pathogenic -2.627 Highly Destabilizing 0.99 D 0.854 deleterious D 0.583256418 None None N
V/E 0.8393 likely_pathogenic 0.7956 pathogenic -2.396 Highly Destabilizing 0.993 D 0.811 deleterious None None None None N
V/F 0.3845 ambiguous 0.3518 ambiguous -1.141 Destabilizing 0.014 N 0.441 neutral N 0.514851936 None None N
V/G 0.8069 likely_pathogenic 0.7678 pathogenic -2.469 Highly Destabilizing 0.97 D 0.819 deleterious D 0.607811347 None None N
V/H 0.9172 likely_pathogenic 0.8981 pathogenic -2.294 Highly Destabilizing 0.998 D 0.819 deleterious None None None None N
V/I 0.0992 likely_benign 0.0989 benign -0.527 Destabilizing 0.014 N 0.237 neutral N 0.457685237 None None N
V/K 0.9125 likely_pathogenic 0.8936 pathogenic -1.504 Destabilizing 0.978 D 0.815 deleterious None None None None N
V/L 0.4307 ambiguous 0.3988 ambiguous -0.527 Destabilizing 0.125 N 0.462 neutral N 0.504386854 None None N
V/M 0.3056 likely_benign 0.2769 benign -0.621 Destabilizing 0.956 D 0.766 deleterious None None None None N
V/N 0.8541 likely_pathogenic 0.8241 pathogenic -1.878 Destabilizing 0.993 D 0.851 deleterious None None None None N
V/P 0.9979 likely_pathogenic 0.9975 pathogenic -0.981 Destabilizing 0.993 D 0.828 deleterious None None None None N
V/Q 0.816 likely_pathogenic 0.7844 pathogenic -1.691 Destabilizing 0.993 D 0.818 deleterious None None None None N
V/R 0.8572 likely_pathogenic 0.8264 pathogenic -1.403 Destabilizing 0.993 D 0.854 deleterious None None None None N
V/S 0.642 likely_pathogenic 0.6035 pathogenic -2.413 Highly Destabilizing 0.978 D 0.806 deleterious None None None None N
V/T 0.3796 ambiguous 0.3624 ambiguous -2.055 Highly Destabilizing 0.86 D 0.712 prob.delet. None None None None N
V/W 0.9675 likely_pathogenic 0.9616 pathogenic -1.707 Destabilizing 0.998 D 0.815 deleterious None None None None N
V/Y 0.8775 likely_pathogenic 0.8609 pathogenic -1.303 Destabilizing 0.915 D 0.807 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.