Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC695521088;21089;21090 chr2:178724512;178724511;178724510chr2:179589239;179589238;179589237
N2AB663820137;20138;20139 chr2:178724512;178724511;178724510chr2:179589239;179589238;179589237
N2A571117356;17357;17358 chr2:178724512;178724511;178724510chr2:179589239;179589238;179589237
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: G
  • RefSeq wild type transcript codon: GGA
  • RefSeq wild type template codon: CCT
  • Domain: Ig-54
  • Domain position: 8
  • Structural Position: 9
  • Q(SASA): 0.5343
  • 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
G/R rs2079001383 None 0.213 N 0.564 0.118 0.474798811001 gnomAD-4.0.0 6.89834E-07 None None None None I None 0 0 None 0 0 None 0 0 9.06275E-07 0 0
G/V rs1030144785 None 0.351 N 0.637 0.235 None gnomAD-2.1.1 4.1E-06 None None None None I None 0 0 None 0 0 None 0 None 0 0 1.70242E-04
G/V rs1030144785 None 0.351 N 0.637 0.235 None gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
G/V rs1030144785 None 0.351 N 0.637 0.235 None gnomAD-4.0.0 1.06141E-05 None None None None I None 0 0 None 0 0 None 0 0 1.28051E-05 0 3.23353E-05

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
G/A 0.0896 likely_benign 0.0802 benign -0.23 Destabilizing 0.101 N 0.331 neutral N 0.495789235 None None I
G/C 0.2188 likely_benign 0.196 benign -0.868 Destabilizing 0.983 D 0.595 neutral None None None None I
G/D 0.1463 likely_benign 0.1216 benign -0.682 Destabilizing 0.001 N 0.17 neutral None None None None I
G/E 0.0956 likely_benign 0.088 benign -0.844 Destabilizing 0.001 N 0.219 neutral N 0.464754252 None None I
G/F 0.3469 ambiguous 0.3034 benign -0.97 Destabilizing 0.836 D 0.648 neutral None None None None I
G/H 0.2653 likely_benign 0.2318 benign -0.512 Destabilizing 0.836 D 0.598 neutral None None None None I
G/I 0.1328 likely_benign 0.1252 benign -0.383 Destabilizing 0.836 D 0.651 neutral None None None None I
G/K 0.1903 likely_benign 0.1776 benign -0.863 Destabilizing 0.004 N 0.223 neutral None None None None I
G/L 0.1941 likely_benign 0.1787 benign -0.383 Destabilizing 0.418 N 0.609 neutral None None None None I
G/M 0.2732 likely_benign 0.244 benign -0.498 Destabilizing 0.983 D 0.603 neutral None None None None I
G/N 0.2112 likely_benign 0.1757 benign -0.482 Destabilizing 0.264 N 0.346 neutral None None None None I
G/P 0.4977 ambiguous 0.4231 ambiguous -0.3 Destabilizing 0.593 D 0.589 neutral None None None None I
G/Q 0.1675 likely_benign 0.1535 benign -0.766 Destabilizing 0.264 N 0.606 neutral None None None None I
G/R 0.1524 likely_benign 0.1469 benign -0.419 Destabilizing 0.213 N 0.564 neutral N 0.446360492 None None I
G/S 0.0836 likely_benign 0.0737 benign -0.589 Destabilizing 0.01 N 0.108 neutral None None None None I
G/T 0.1074 likely_benign 0.0951 benign -0.686 Destabilizing 0.264 N 0.527 neutral None None None None I
G/V 0.0936 likely_benign 0.0885 benign -0.3 Destabilizing 0.351 N 0.637 neutral N 0.494962516 None None I
G/W 0.2956 likely_benign 0.2672 benign -1.137 Destabilizing 0.983 D 0.593 neutral None None None None I
G/Y 0.3004 likely_benign 0.2566 benign -0.787 Destabilizing 0.94 D 0.649 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.