Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1786553818;53819;53820 chr2:178605702;178605701;178605700chr2:179470429;179470428;179470427
N2AB1622448895;48896;48897 chr2:178605702;178605701;178605700chr2:179470429;179470428;179470427
N2A1529746114;46115;46116 chr2:178605702;178605701;178605700chr2:179470429;179470428;179470427
N2B880026623;26624;26625 chr2:178605702;178605701;178605700chr2:179470429;179470428;179470427
Novex-1892526998;26999;27000 chr2:178605702;178605701;178605700chr2:179470429;179470428;179470427
Novex-2899227199;27200;27201 chr2:178605702;178605701;178605700chr2:179470429;179470428;179470427
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCT
  • RefSeq wild type template codon: AGA
  • Domain: Fn3-18
  • Domain position: 4
  • Structural Position: 4
  • Q(SASA): 0.1717
  • 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
S/A rs756689912 -0.278 0.001 N 0.275 0.046 0.0297737177859 gnomAD-2.1.1 4.86E-06 None None None None N None 0 4.06E-05 None 0 0 None 0 None 0 0 0
S/A rs756689912 -0.278 0.001 N 0.275 0.046 0.0297737177859 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
S/A rs756689912 -0.278 0.001 N 0.275 0.046 0.0297737177859 gnomAD-4.0.0 6.58042E-06 None None None None N None 0 6.55652E-05 None 0 0 None 0 0 0 0 0
S/C rs753095229 -0.92 0.928 N 0.772 0.186 0.356484672536 gnomAD-2.1.1 4.85E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.01E-05 0
S/C rs753095229 -0.92 0.928 N 0.772 0.186 0.356484672536 gnomAD-4.0.0 2.16502E-06 None None None None N None 0 0 None 0 0 None 0 0 2.80031E-06 0 0
S/F rs753095229 None 0.193 N 0.807 0.211 0.451786746415 gnomAD-4.0.0 2.16502E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.20486E-05 0
S/T rs756689912 -0.726 0.09 N 0.636 0.04 0.0611884634855 gnomAD-2.1.1 9.72E-06 None None None None N None 0 0 None 0 0 None 0 None 0 2.03E-05 0
S/T rs756689912 -0.726 0.09 N 0.636 0.04 0.0611884634855 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.42E-05 0 0
S/T rs756689912 -0.726 0.09 N 0.636 0.04 0.0611884634855 gnomAD-4.0.0 1.04082E-05 None None None None N None 0 0 None 0 0 None 0 0 1.40469E-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
S/A 0.0702 likely_benign 0.0618 benign -0.295 Destabilizing 0.001 N 0.275 neutral N 0.372558088 None None N
S/C 0.1241 likely_benign 0.1141 benign -0.684 Destabilizing 0.928 D 0.772 deleterious N 0.482560861 None None N
S/D 0.8617 likely_pathogenic 0.8283 pathogenic -1.83 Destabilizing 0.388 N 0.671 neutral None None None None N
S/E 0.8188 likely_pathogenic 0.7887 pathogenic -1.82 Destabilizing 0.388 N 0.661 neutral None None None None N
S/F 0.4143 ambiguous 0.3366 benign -0.758 Destabilizing 0.193 N 0.807 deleterious N 0.505456363 None None N
S/G 0.2013 likely_benign 0.1714 benign -0.496 Destabilizing 0.116 N 0.621 neutral None None None None N
S/H 0.6144 likely_pathogenic 0.5662 pathogenic -1.078 Destabilizing 0.69 D 0.781 deleterious None None None None N
S/I 0.4047 ambiguous 0.3206 benign 0.128 Stabilizing 0.388 N 0.81 deleterious None None None None N
S/K 0.9156 likely_pathogenic 0.8939 pathogenic -0.672 Destabilizing 0.388 N 0.663 neutral None None None None N
S/L 0.2545 likely_benign 0.2154 benign 0.128 Stabilizing 0.241 N 0.714 prob.delet. None None None None N
S/M 0.3718 ambiguous 0.3047 benign 0.415 Stabilizing 0.818 D 0.78 deleterious None None None None N
S/N 0.4022 ambiguous 0.3414 ambiguous -1.027 Destabilizing 0.563 D 0.689 prob.neutral None None None None N
S/P 0.1837 likely_benign 0.1474 benign 0.019 Stabilizing 0.001 N 0.433 neutral N 0.362749313 None None N
S/Q 0.6905 likely_pathogenic 0.6482 pathogenic -1.311 Destabilizing 0.818 D 0.713 prob.delet. None None None None N
S/R 0.8672 likely_pathogenic 0.8524 pathogenic -0.445 Destabilizing 0.69 D 0.799 deleterious None None None None N
S/T 0.1952 likely_benign 0.1564 benign -0.752 Destabilizing 0.09 N 0.636 neutral N 0.469572921 None None N
S/V 0.3262 likely_benign 0.2514 benign 0.019 Stabilizing 0.241 N 0.717 prob.delet. None None None None N
S/W 0.6242 likely_pathogenic 0.585 pathogenic -0.902 Destabilizing 0.981 D 0.829 deleterious None None None None N
S/Y 0.3321 likely_benign 0.296 benign -0.49 Destabilizing 0.003 N 0.481 neutral N 0.472382743 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.