Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC849025693;25694;25695 chr2:178717266;178717265;178717264chr2:179581993;179581992;179581991
N2AB817324742;24743;24744 chr2:178717266;178717265;178717264chr2:179581993;179581992;179581991
N2A724621961;21962;21963 chr2:178717266;178717265;178717264chr2:179581993;179581992;179581991
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: A
  • RefSeq wild type transcript codon: GCC
  • RefSeq wild type template codon: CGG
  • Domain: Ig-70
  • Domain position: 35
  • Structural Position: 49
  • Q(SASA): 0.121
  • 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
A/S None None 0.021 N 0.31 0.08 0.159798565429 gnomAD-4.0.0 3.42136E-06 None None None None N None 0 0 None 0 0 None 0 1.7343E-04 0 4.638E-05 0
A/T rs1411592951 -0.794 0.062 N 0.445 0.047 0.184867976434 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
A/T rs1411592951 -0.794 0.062 N 0.445 0.047 0.184867976434 gnomAD-4.0.0 1.36854E-06 None None None None N None 0 2.23644E-05 None 0 0 None 0 0 8.99548E-07 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
A/C 0.726 likely_pathogenic 0.5994 pathogenic -0.703 Destabilizing 0.999 D 0.64 neutral None None None None N
A/D 0.7427 likely_pathogenic 0.6006 pathogenic -2.156 Highly Destabilizing 0.884 D 0.685 prob.neutral N 0.45484274 None None N
A/E 0.5789 likely_pathogenic 0.4302 ambiguous -1.899 Destabilizing 0.876 D 0.618 neutral None None None None N
A/F 0.4191 ambiguous 0.3247 benign -0.337 Destabilizing 0.214 N 0.538 neutral None None None None N
A/G 0.2149 likely_benign 0.18 benign -1.224 Destabilizing 0.425 N 0.571 neutral N 0.510714962 None None N
A/H 0.7078 likely_pathogenic 0.5632 ambiguous -1.986 Destabilizing 0.996 D 0.643 neutral None None None None N
A/I 0.4331 ambiguous 0.3311 benign 0.749 Stabilizing 0.95 D 0.663 neutral None None None None N
A/K 0.7986 likely_pathogenic 0.6482 pathogenic -0.681 Destabilizing 0.95 D 0.611 neutral None None None None N
A/L 0.2965 likely_benign 0.2225 benign 0.749 Stabilizing 0.886 D 0.607 neutral None None None None N
A/M 0.2921 likely_benign 0.2326 benign 0.331 Stabilizing 0.886 D 0.563 neutral None None None None N
A/N 0.491 ambiguous 0.3676 ambiguous -1.14 Destabilizing 0.805 D 0.689 prob.neutral None None None None N
A/P 0.9904 likely_pathogenic 0.9809 pathogenic 0.311 Stabilizing 0.982 D 0.689 prob.neutral N 0.46636363 None None N
A/Q 0.5245 ambiguous 0.4083 ambiguous -0.803 Destabilizing 0.772 D 0.477 neutral None None None None N
A/R 0.7094 likely_pathogenic 0.5575 ambiguous -1.099 Destabilizing 0.992 D 0.682 prob.neutral None None None None N
A/S 0.1182 likely_benign 0.1028 benign -1.493 Destabilizing 0.021 N 0.31 neutral N 0.406145013 None None N
A/T 0.1436 likely_benign 0.1113 benign -1.097 Destabilizing 0.062 N 0.445 neutral N 0.411377474 None None N
A/V 0.2277 likely_benign 0.1759 benign 0.311 Stabilizing 0.687 D 0.569 neutral N 0.438564076 None None N
A/W 0.8702 likely_pathogenic 0.7846 pathogenic -1.276 Destabilizing 1.0 D 0.679 prob.neutral None None None None N
A/Y 0.6176 likely_pathogenic 0.4876 ambiguous -0.619 Destabilizing 0.985 D 0.677 prob.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.