Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3176195506;95507;95508 chr2:178545955;178545954;178545953chr2:179410682;179410681;179410680
N2AB3012090583;90584;90585 chr2:178545955;178545954;178545953chr2:179410682;179410681;179410680
N2A2919387802;87803;87804 chr2:178545955;178545954;178545953chr2:179410682;179410681;179410680
N2B2269668311;68312;68313 chr2:178545955;178545954;178545953chr2:179410682;179410681;179410680
Novex-12282168686;68687;68688 chr2:178545955;178545954;178545953chr2:179410682;179410681;179410680
Novex-22288868887;68888;68889 chr2:178545955;178545954;178545953chr2:179410682;179410681;179410680
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Fn3-119
  • Domain position: 54
  • Structural Position: 75
  • Q(SASA): 0.4759
  • 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
E/K rs727505342 -0.117 1.0 N 0.574 0.411 0.332646915603 gnomAD-2.1.1 1.21E-05 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 1.78E-05 0
E/K rs727505342 -0.117 1.0 N 0.574 0.411 0.332646915603 gnomAD-3.1.2 1.97E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 1.47E-05 0 0
E/K rs727505342 -0.117 1.0 N 0.574 0.411 0.332646915603 gnomAD-4.0.0 9.29459E-06 None None None None I None 2.66539E-05 1.6665E-05 None 0 0 None 0 1.64962E-04 7.62842E-06 2.19578E-05 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
E/A 0.1206 likely_benign 0.1158 benign -0.579 Destabilizing 0.999 D 0.648 neutral N 0.479019123 None None I
E/C 0.7188 likely_pathogenic 0.688 pathogenic -0.261 Destabilizing 1.0 D 0.713 prob.delet. None None None None I
E/D 0.118 likely_benign 0.1027 benign -0.399 Destabilizing 0.999 D 0.422 neutral N 0.410369902 None None I
E/F 0.597 likely_pathogenic 0.5633 ambiguous -0.373 Destabilizing 1.0 D 0.691 prob.neutral None None None None I
E/G 0.1745 likely_benign 0.1496 benign -0.81 Destabilizing 1.0 D 0.623 neutral N 0.454950185 None None I
E/H 0.3535 ambiguous 0.3214 benign -0.242 Destabilizing 1.0 D 0.655 neutral None None None None I
E/I 0.2402 likely_benign 0.2379 benign 0.014 Stabilizing 1.0 D 0.701 prob.neutral None None None None I
E/K 0.1272 likely_benign 0.1171 benign -0.186 Destabilizing 1.0 D 0.574 neutral N 0.45983593 None None I
E/L 0.324 likely_benign 0.3049 benign 0.014 Stabilizing 1.0 D 0.682 prob.neutral None None None None I
E/M 0.35 ambiguous 0.3392 benign 0.151 Stabilizing 1.0 D 0.641 neutral None None None None I
E/N 0.1643 likely_benign 0.1414 benign -0.357 Destabilizing 1.0 D 0.691 prob.neutral None None None None I
E/P 0.4859 ambiguous 0.503 ambiguous -0.163 Destabilizing 1.0 D 0.671 neutral None None None None I
E/Q 0.1146 likely_benign 0.1106 benign -0.306 Destabilizing 1.0 D 0.61 neutral N 0.493623217 None None I
E/R 0.2164 likely_benign 0.2053 benign 0.123 Stabilizing 1.0 D 0.685 prob.neutral None None None None I
E/S 0.1438 likely_benign 0.1284 benign -0.606 Destabilizing 0.999 D 0.643 neutral None None None None I
E/T 0.156 likely_benign 0.149 benign -0.429 Destabilizing 1.0 D 0.675 neutral None None None None I
E/V 0.1551 likely_benign 0.156 benign -0.163 Destabilizing 1.0 D 0.672 neutral N 0.490505554 None None I
E/W 0.862 likely_pathogenic 0.8451 pathogenic -0.209 Destabilizing 1.0 D 0.715 prob.delet. None None None None I
E/Y 0.4896 ambiguous 0.4512 ambiguous -0.154 Destabilizing 1.0 D 0.66 neutral 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.