Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2393272019;72020;72021 chr2:178574338;178574337;178574336chr2:179439065;179439064;179439063
N2AB2229167096;67097;67098 chr2:178574338;178574337;178574336chr2:179439065;179439064;179439063
N2A2136464315;64316;64317 chr2:178574338;178574337;178574336chr2:179439065;179439064;179439063
N2B1486744824;44825;44826 chr2:178574338;178574337;178574336chr2:179439065;179439064;179439063
Novex-11499245199;45200;45201 chr2:178574338;178574337;178574336chr2:179439065;179439064;179439063
Novex-21505945400;45401;45402 chr2:178574338;178574337;178574336chr2:179439065;179439064;179439063
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTA
  • RefSeq wild type template codon: CAT
  • Domain: Fn3-62
  • Domain position: 9
  • Structural Position: 11
  • Q(SASA): 0.3938
  • 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 rs1437243224 None 0.001 N 0.141 0.088 0.0551355673512 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
V/I rs1437243224 None 0.001 N 0.141 0.088 0.0551355673512 gnomAD-4.0.0 6.57557E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47059E-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
V/A 0.154 likely_benign 0.1484 benign -1.103 Destabilizing 0.165 N 0.445 neutral N 0.486926531 None None N
V/C 0.6413 likely_pathogenic 0.6149 pathogenic -0.741 Destabilizing 0.981 D 0.533 neutral None None None None N
V/D 0.27 likely_benign 0.2626 benign -0.685 Destabilizing 0.241 N 0.585 neutral None None None None N
V/E 0.1858 likely_benign 0.1788 benign -0.673 Destabilizing 0.001 N 0.353 neutral N 0.375969327 None None N
V/F 0.1326 likely_benign 0.1312 benign -0.727 Destabilizing 0.69 D 0.572 neutral None None None None N
V/G 0.2334 likely_benign 0.2162 benign -1.421 Destabilizing 0.324 N 0.598 neutral N 0.484849018 None None N
V/H 0.3969 ambiguous 0.3924 ambiguous -0.914 Destabilizing 0.944 D 0.609 neutral None None None None N
V/I 0.0639 likely_benign 0.0663 benign -0.34 Destabilizing 0.001 N 0.141 neutral N 0.487446606 None None N
V/K 0.242 likely_benign 0.2421 benign -0.94 Destabilizing 0.241 N 0.577 neutral None None None None N
V/L 0.1147 likely_benign 0.1105 benign -0.34 Destabilizing 0.033 N 0.403 neutral N 0.475768175 None None N
V/M 0.102 likely_benign 0.0993 benign -0.325 Destabilizing 0.69 D 0.497 neutral None None None None N
V/N 0.173 likely_benign 0.1692 benign -0.782 Destabilizing 0.69 D 0.629 neutral None None None None N
V/P 0.8114 likely_pathogenic 0.8191 pathogenic -0.558 Destabilizing 0.818 D 0.627 neutral None None None None N
V/Q 0.2121 likely_benign 0.2068 benign -0.885 Destabilizing 0.527 D 0.621 neutral None None None None N
V/R 0.2237 likely_benign 0.2262 benign -0.505 Destabilizing 0.69 D 0.626 neutral None None None None N
V/S 0.1641 likely_benign 0.1548 benign -1.322 Destabilizing 0.241 N 0.529 neutral None None None None N
V/T 0.1403 likely_benign 0.1339 benign -1.192 Destabilizing 0.008 N 0.338 neutral None None None None N
V/W 0.7132 likely_pathogenic 0.7154 pathogenic -0.942 Destabilizing 0.981 D 0.672 neutral None None None None N
V/Y 0.3936 ambiguous 0.3875 ambiguous -0.618 Destabilizing 0.818 D 0.566 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.