Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC373911440;11441;11442 chr2:178756261;178756260;178756259chr2:179620988;179620987;179620986
N2ABNoneNone chr2:Nonechr2:None
N2ANoneNone chr2:Nonechr2:None
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2356810927;10928;10929 chr2:178756261;178756260;178756259chr2:179620988;179620987;179620986
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-26
  • Domain position: 80
  • Structural Position: 164
  • Q(SASA): 0.1973
  • 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/E rs371678138 -1.759 None None None 0.288 None gnomAD-2.1.1 8.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
G/E rs371678138 -1.759 None None None 0.288 None gnomAD-4.0.0 4.10651E-06 None None None None I None 0 0 None 0 0 None 0 0 5.39839E-06 0 0
G/R None None None None None 0.312 None gnomAD-4.0.0 6.84404E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99726E-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
G/A 0.2955 likely_benign None None -0.766 Destabilizing None None None None None None None None I
G/C 0.4383 ambiguous None None -0.76 Destabilizing None None None None None None None None I
G/D 0.4491 ambiguous None None -1.852 Destabilizing None None None None None None None None I
G/E 0.4004 ambiguous None None -1.994 Destabilizing None None None None None None None None I
G/F 0.8064 likely_pathogenic None None -1.405 Destabilizing None None None None None None None None I
G/H 0.6491 likely_pathogenic None None -1.283 Destabilizing None None None None None None None None I
G/I 0.6303 likely_pathogenic None None -0.71 Destabilizing None None None None None None None None I
G/K 0.5214 ambiguous None None -1.487 Destabilizing None None None None None None None None I
G/L 0.702 likely_pathogenic None None -0.71 Destabilizing None None None None None None None None I
G/M 0.7428 likely_pathogenic None None -0.348 Destabilizing None None None None None None None None I
G/N 0.5884 likely_pathogenic None None -1.009 Destabilizing None None None None None None None None I
G/P 0.9578 likely_pathogenic None None -0.695 Destabilizing None None None None None None None None I
G/Q 0.4834 ambiguous None None -1.361 Destabilizing None None None None None None None None I
G/R 0.338 likely_benign None None -0.905 Destabilizing None None None None None None None None I
G/S 0.1811 likely_benign None None -1.016 Destabilizing None None None None None None None None I
G/T 0.4207 ambiguous None None -1.126 Destabilizing None None None None None None None None I
G/V 0.5052 ambiguous None None -0.695 Destabilizing None None None None None None None None I
G/W 0.6311 likely_pathogenic None None -1.641 Destabilizing None None None None None None None None I
G/Y 0.6871 likely_pathogenic None None -1.34 Destabilizing None None None None 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.