Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC33317100174;100175;100176 chr2:178537160;178537159;178537158chr2:179401887;179401886;179401885
N2AB3167695251;95252;95253 chr2:178537160;178537159;178537158chr2:179401887;179401886;179401885
N2A3074992470;92471;92472 chr2:178537160;178537159;178537158chr2:179401887;179401886;179401885
N2B2425272979;72980;72981 chr2:178537160;178537159;178537158chr2:179401887;179401886;179401885
Novex-12437773354;73355;73356 chr2:178537160;178537159;178537158chr2:179401887;179401886;179401885
Novex-22444473555;73556;73557 chr2:178537160;178537159;178537158chr2:179401887;179401886;179401885
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAT
  • RefSeq wild type template codon: CTA
  • Domain: Fn3-130
  • Domain position: 28
  • Structural Position: 29
  • Q(SASA): 0.429
  • 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
D/Y rs1318907026 -0.189 1.0 N 0.687 0.555 0.637732811552 gnomAD-2.1.1 3.19E-05 None None None None I None 1.14837E-04 0 None 0 0 None 0 None 0 0 0
D/Y rs1318907026 -0.189 1.0 N 0.687 0.555 0.637732811552 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
D/Y rs1318907026 -0.189 1.0 N 0.687 0.555 0.637732811552 gnomAD-4.0.0 2.56257E-06 None None None None I None 3.38249E-05 0 None 0 0 None 0 0 0 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
D/A 0.6197 likely_pathogenic 0.52 ambiguous -0.141 Destabilizing 1.0 D 0.743 deleterious N 0.488116687 None None I
D/C 0.9175 likely_pathogenic 0.876 pathogenic 0.316 Stabilizing 1.0 D 0.702 prob.neutral None None None None I
D/E 0.5381 ambiguous 0.5155 ambiguous -0.286 Destabilizing 1.0 D 0.421 neutral N 0.46423876 None None I
D/F 0.8923 likely_pathogenic 0.8707 pathogenic -0.322 Destabilizing 1.0 D 0.706 prob.neutral None None None None I
D/G 0.6287 likely_pathogenic 0.5364 ambiguous -0.312 Destabilizing 1.0 D 0.708 prob.delet. N 0.492902853 None None I
D/H 0.7802 likely_pathogenic 0.7008 pathogenic -0.273 Destabilizing 1.0 D 0.663 neutral N 0.482369468 None None I
D/I 0.83 likely_pathogenic 0.7682 pathogenic 0.249 Stabilizing 1.0 D 0.734 prob.delet. None None None None I
D/K 0.8394 likely_pathogenic 0.7556 pathogenic 0.494 Stabilizing 1.0 D 0.763 deleterious None None None None I
D/L 0.8471 likely_pathogenic 0.8055 pathogenic 0.249 Stabilizing 1.0 D 0.765 deleterious None None None None I
D/M 0.935 likely_pathogenic 0.9189 pathogenic 0.485 Stabilizing 1.0 D 0.701 prob.neutral None None None None I
D/N 0.22 likely_benign 0.1879 benign 0.313 Stabilizing 1.0 D 0.681 prob.neutral N 0.472290156 None None I
D/P 0.9899 likely_pathogenic 0.9854 pathogenic 0.141 Stabilizing 1.0 D 0.757 deleterious None None None None I
D/Q 0.8277 likely_pathogenic 0.7744 pathogenic 0.32 Stabilizing 1.0 D 0.735 prob.delet. None None None None I
D/R 0.8634 likely_pathogenic 0.7791 pathogenic 0.505 Stabilizing 1.0 D 0.743 deleterious None None None None I
D/S 0.4098 ambiguous 0.3356 benign 0.217 Stabilizing 1.0 D 0.709 prob.delet. None None None None I
D/T 0.6491 likely_pathogenic 0.5787 pathogenic 0.347 Stabilizing 1.0 D 0.769 deleterious None None None None I
D/V 0.6434 likely_pathogenic 0.5423 ambiguous 0.141 Stabilizing 1.0 D 0.767 deleterious N 0.496016725 None None I
D/W 0.9837 likely_pathogenic 0.981 pathogenic -0.278 Destabilizing 1.0 D 0.706 prob.neutral None None None None I
D/Y 0.6243 likely_pathogenic 0.5588 ambiguous -0.098 Destabilizing 1.0 D 0.687 prob.neutral N 0.468215233 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.