Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1671450365;50366;50367 chr2:178612385;178612384;178612383chr2:179477112;179477111;179477110
N2AB1507345442;45443;45444 chr2:178612385;178612384;178612383chr2:179477112;179477111;179477110
N2A1414642661;42662;42663 chr2:178612385;178612384;178612383chr2:179477112;179477111;179477110
N2B764923170;23171;23172 chr2:178612385;178612384;178612383chr2:179477112;179477111;179477110
Novex-1777423545;23546;23547 chr2:178612385;178612384;178612383chr2:179477112;179477111;179477110
Novex-2784123746;23747;23748 chr2:178612385;178612384;178612383chr2:179477112;179477111;179477110
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCA
  • RefSeq wild type template codon: GGT
  • Domain: Fn3-9
  • Domain position: 64
  • Structural Position: 96
  • Q(SASA): 0.6626
  • 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
P/L rs1309789816 0.216 1.0 N 0.665 0.462 0.675375996808 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.95E-06 0
P/L rs1309789816 0.216 1.0 N 0.665 0.462 0.675375996808 gnomAD-4.0.0 2.05411E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69959E-06 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
P/A 0.4894 ambiguous 0.5159 ambiguous -0.523 Destabilizing 1.0 D 0.689 prob.neutral N 0.479159079 None None N
P/C 0.9615 likely_pathogenic 0.9708 pathogenic -0.627 Destabilizing 1.0 D 0.687 prob.neutral None None None None N
P/D 0.9165 likely_pathogenic 0.9316 pathogenic -0.414 Destabilizing 1.0 D 0.702 prob.neutral None None None None N
P/E 0.8951 likely_pathogenic 0.9165 pathogenic -0.517 Destabilizing 1.0 D 0.707 prob.neutral None None None None N
P/F 0.9825 likely_pathogenic 0.9845 pathogenic -0.695 Destabilizing 1.0 D 0.667 neutral None None None None N
P/G 0.724 likely_pathogenic 0.7542 pathogenic -0.669 Destabilizing 1.0 D 0.691 prob.neutral None None None None N
P/H 0.8588 likely_pathogenic 0.8773 pathogenic -0.179 Destabilizing 1.0 D 0.657 neutral None None None None N
P/I 0.9428 likely_pathogenic 0.9492 pathogenic -0.28 Destabilizing 1.0 D 0.69 prob.neutral None None None None N
P/K 0.951 likely_pathogenic 0.967 pathogenic -0.508 Destabilizing 1.0 D 0.705 prob.neutral None None None None N
P/L 0.8043 likely_pathogenic 0.8084 pathogenic -0.28 Destabilizing 1.0 D 0.665 neutral N 0.506408803 None None N
P/M 0.9259 likely_pathogenic 0.9293 pathogenic -0.369 Destabilizing 1.0 D 0.657 neutral None None None None N
P/N 0.7955 likely_pathogenic 0.8319 pathogenic -0.245 Destabilizing 1.0 D 0.685 prob.neutral None None None None N
P/Q 0.8045 likely_pathogenic 0.8226 pathogenic -0.484 Destabilizing 1.0 D 0.697 prob.neutral N 0.46823939 None None N
P/R 0.8997 likely_pathogenic 0.9226 pathogenic 0.037 Stabilizing 1.0 D 0.683 prob.neutral N 0.44944377 None None N
P/S 0.6207 likely_pathogenic 0.6521 pathogenic -0.604 Destabilizing 1.0 D 0.715 prob.delet. N 0.447124907 None None N
P/T 0.6501 likely_pathogenic 0.6608 pathogenic -0.605 Destabilizing 1.0 D 0.707 prob.neutral N 0.475483706 None None N
P/V 0.8567 likely_pathogenic 0.8664 pathogenic -0.326 Destabilizing 1.0 D 0.67 neutral None None None None N
P/W 0.9927 likely_pathogenic 0.9939 pathogenic -0.778 Destabilizing 1.0 D 0.69 prob.neutral None None None None N
P/Y 0.967 likely_pathogenic 0.9743 pathogenic -0.484 Destabilizing 1.0 D 0.688 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.