Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1381141656;41657;41658 chr2:178636140;178636139;178636138chr2:179500867;179500866;179500865
N2AB1217036733;36734;36735 chr2:178636140;178636139;178636138chr2:179500867;179500866;179500865
N2A1124333952;33953;33954 chr2:178636140;178636139;178636138chr2:179500867;179500866;179500865
N2B474614461;14462;14463 chr2:178636140;178636139;178636138chr2:179500867;179500866;179500865
Novex-1487114836;14837;14838 chr2:178636140;178636139;178636138chr2:179500867;179500866;179500865
Novex-2493815037;15038;15039 chr2:178636140;178636139;178636138chr2:179500867;179500866;179500865
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-88
  • Domain position: 32
  • Structural Position: 47
  • Q(SASA): 0.2936
  • 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 rs920253062 None 0.543 N 0.293 0.118 0.246215685461 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
V/I rs920253062 None 0.543 N 0.293 0.118 0.246215685461 gnomAD-4.0.0 1.3153E-05 None None None None N None 0 0 None 0 0 None 0 0 2.94144E-05 0 0
V/L None None 0.948 N 0.509 0.12 0.384419519794 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-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
V/A 0.6523 likely_pathogenic 0.5751 pathogenic -1.355 Destabilizing 0.973 D 0.598 neutral N 0.334720111 None None N
V/C 0.9363 likely_pathogenic 0.9163 pathogenic -0.834 Destabilizing 1.0 D 0.563 neutral None None None None N
V/D 0.9032 likely_pathogenic 0.8536 pathogenic -1.158 Destabilizing 0.998 D 0.753 deleterious N 0.34656658 None None N
V/E 0.7551 likely_pathogenic 0.6843 pathogenic -1.162 Destabilizing 0.999 D 0.717 prob.delet. None None None None N
V/F 0.4439 ambiguous 0.3893 ambiguous -0.994 Destabilizing 0.998 D 0.605 neutral N 0.332466908 None None N
V/G 0.7963 likely_pathogenic 0.7115 pathogenic -1.663 Destabilizing 0.998 D 0.715 prob.delet. N 0.346928062 None None N
V/H 0.9084 likely_pathogenic 0.8681 pathogenic -1.158 Destabilizing 1.0 D 0.706 prob.delet. None None None None N
V/I 0.0954 likely_benign 0.0917 benign -0.613 Destabilizing 0.543 D 0.293 neutral N 0.34640932 None None N
V/K 0.7859 likely_pathogenic 0.7163 pathogenic -1.184 Destabilizing 0.999 D 0.707 prob.delet. None None None None N
V/L 0.4529 ambiguous 0.4035 ambiguous -0.613 Destabilizing 0.948 D 0.509 neutral N 0.340589003 None None N
V/M 0.3901 ambiguous 0.3523 ambiguous -0.474 Destabilizing 0.999 D 0.581 neutral None None None None N
V/N 0.782 likely_pathogenic 0.7237 pathogenic -0.925 Destabilizing 0.999 D 0.764 deleterious None None None None N
V/P 0.992 likely_pathogenic 0.9861 pathogenic -0.825 Destabilizing 1.0 D 0.687 prob.delet. None None None None N
V/Q 0.7323 likely_pathogenic 0.6671 pathogenic -1.096 Destabilizing 1.0 D 0.69 prob.delet. None None None None N
V/R 0.7381 likely_pathogenic 0.658 pathogenic -0.637 Destabilizing 0.999 D 0.755 deleterious None None None None N
V/S 0.6971 likely_pathogenic 0.6242 pathogenic -1.422 Destabilizing 0.995 D 0.681 prob.neutral None None None None N
V/T 0.4885 ambiguous 0.4189 ambiguous -1.32 Destabilizing 0.611 D 0.327 neutral None None None None N
V/W 0.9734 likely_pathogenic 0.9647 pathogenic -1.175 Destabilizing 1.0 D 0.66 prob.neutral None None None None N
V/Y 0.864 likely_pathogenic 0.8292 pathogenic -0.9 Destabilizing 1.0 D 0.581 neutral 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.