Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2370971350;71351;71352 chr2:178575007;178575006;178575005chr2:179439734;179439733;179439732
N2AB2206866427;66428;66429 chr2:178575007;178575006;178575005chr2:179439734;179439733;179439732
N2A2114163646;63647;63648 chr2:178575007;178575006;178575005chr2:179439734;179439733;179439732
N2B1464444155;44156;44157 chr2:178575007;178575006;178575005chr2:179439734;179439733;179439732
Novex-11476944530;44531;44532 chr2:178575007;178575006;178575005chr2:179439734;179439733;179439732
Novex-21483644731;44732;44733 chr2:178575007;178575006;178575005chr2:179439734;179439733;179439732
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: AGG
  • RefSeq wild type template codon: TCC
  • Domain: Ig-130
  • Domain position: 73
  • Structural Position: 159
  • Q(SASA): 0.5796
  • Predicted PPI site: I

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
R/S rs1252709285 -0.663 0.012 N 0.461 0.098 0.151104730317 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.62E-05 None 0 None 0 0 0
R/S rs1252709285 -0.663 0.012 N 0.461 0.098 0.151104730317 gnomAD-4.0.0 6.84377E-07 None None None None I None 2.98864E-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
R/A 0.2825 likely_benign 0.2568 benign -0.483 Destabilizing None N 0.21 neutral None None None None I
R/C 0.1473 likely_benign 0.1572 benign -0.371 Destabilizing 0.676 D 0.465 neutral None None None None I
R/D 0.6634 likely_pathogenic 0.6516 pathogenic -0.176 Destabilizing 0.072 N 0.511 neutral None None None None I
R/E 0.2881 likely_benign 0.2599 benign -0.12 Destabilizing 0.016 N 0.362 neutral None None None None I
R/F 0.5388 ambiguous 0.5111 ambiguous -0.715 Destabilizing 0.356 N 0.486 neutral None None None None I
R/G 0.2221 likely_benign 0.2099 benign -0.696 Destabilizing 0.012 N 0.559 neutral N 0.517378016 None None I
R/H 0.0938 likely_benign 0.1007 benign -1.074 Destabilizing 0.356 N 0.431 neutral None None None None I
R/I 0.2457 likely_benign 0.2227 benign 0.057 Stabilizing 0.214 N 0.509 neutral None None None None I
R/K 0.0606 likely_benign 0.0586 benign -0.474 Destabilizing None N 0.164 neutral N 0.417981812 None None I
R/L 0.2493 likely_benign 0.2429 benign 0.057 Stabilizing 0.016 N 0.534 neutral None None None None I
R/M 0.2112 likely_benign 0.1924 benign -0.055 Destabilizing 0.56 D 0.451 neutral D 0.528768445 None None I
R/N 0.437 ambiguous 0.4126 ambiguous 0.066 Stabilizing 0.072 N 0.334 neutral None None None None I
R/P 0.9467 likely_pathogenic 0.9366 pathogenic -0.103 Destabilizing 0.136 N 0.529 neutral None None None None I
R/Q 0.0845 likely_benign 0.0855 benign -0.223 Destabilizing 0.038 N 0.363 neutral None None None None I
R/S 0.3032 likely_benign 0.2798 benign -0.532 Destabilizing 0.012 N 0.461 neutral N 0.410863839 None None I
R/T 0.141 likely_benign 0.1255 benign -0.341 Destabilizing 0.024 N 0.469 neutral N 0.449264725 None None I
R/V 0.2628 likely_benign 0.2419 benign -0.103 Destabilizing 0.038 N 0.531 neutral None None None None I
R/W 0.2431 likely_benign 0.2256 benign -0.567 Destabilizing 0.828 D 0.485 neutral D 0.53675321 None None I
R/Y 0.4252 ambiguous 0.4157 ambiguous -0.198 Destabilizing 0.628 D 0.468 neutral None None None None I

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.