Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1432543198;43199;43200 chr2:178633300;178633299;178633298chr2:179498027;179498026;179498025
N2AB1268438275;38276;38277 chr2:178633300;178633299;178633298chr2:179498027;179498026;179498025
N2A1175735494;35495;35496 chr2:178633300;178633299;178633298chr2:179498027;179498026;179498025
N2B526016003;16004;16005 chr2:178633300;178633299;178633298chr2:179498027;179498026;179498025
Novex-1538516378;16379;16380 chr2:178633300;178633299;178633298chr2:179498027;179498026;179498025
Novex-2545216579;16580;16581 chr2:178633300;178633299;178633298chr2:179498027;179498026;179498025
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: L
  • RefSeq wild type transcript codon: CTG
  • RefSeq wild type template codon: GAC
  • Domain: Ig-94
  • Domain position: 7
  • Structural Position: 8
  • Q(SASA): 0.0969
  • 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
L/P rs979749249 -1.136 0.998 D 0.835 0.478 0.610312411291 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 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
L/A 0.8931 likely_pathogenic 0.8975 pathogenic -2.123 Highly Destabilizing 0.964 D 0.619 neutral None None None None N
L/C 0.9297 likely_pathogenic 0.9355 pathogenic -1.331 Destabilizing 1.0 D 0.725 deleterious None None None None N
L/D 0.9981 likely_pathogenic 0.9984 pathogenic -2.217 Highly Destabilizing 0.998 D 0.835 deleterious None None None None N
L/E 0.9892 likely_pathogenic 0.9918 pathogenic -1.971 Destabilizing 0.998 D 0.849 deleterious None None None None N
L/F 0.818 likely_pathogenic 0.8222 pathogenic -1.153 Destabilizing 0.99 D 0.742 deleterious None None None None N
L/G 0.9835 likely_pathogenic 0.9862 pathogenic -2.682 Highly Destabilizing 0.995 D 0.853 deleterious None None None None N
L/H 0.9815 likely_pathogenic 0.9865 pathogenic -2.216 Highly Destabilizing 1.0 D 0.786 deleterious None None None None N
L/I 0.284 likely_benign 0.2563 benign -0.512 Destabilizing 0.455 N 0.325 neutral None None None None N
L/K 0.9837 likely_pathogenic 0.9885 pathogenic -1.447 Destabilizing 0.995 D 0.822 deleterious None None None None N
L/M 0.4375 ambiguous 0.3959 ambiguous -0.549 Destabilizing 0.647 D 0.343 neutral N 0.439067303 None None N
L/N 0.9848 likely_pathogenic 0.9874 pathogenic -1.81 Destabilizing 0.998 D 0.829 deleterious None None None None N
L/P 0.9323 likely_pathogenic 0.9538 pathogenic -1.029 Destabilizing 0.998 D 0.835 deleterious D 0.610592339 None None N
L/Q 0.9584 likely_pathogenic 0.9667 pathogenic -1.611 Destabilizing 0.993 D 0.78 deleterious D 0.624485567 None None N
L/R 0.9599 likely_pathogenic 0.9756 pathogenic -1.363 Destabilizing 0.993 D 0.792 deleterious D 0.623658585 None None N
L/S 0.9735 likely_pathogenic 0.9762 pathogenic -2.517 Highly Destabilizing 0.995 D 0.804 deleterious None None None None N
L/T 0.9241 likely_pathogenic 0.9304 pathogenic -2.119 Highly Destabilizing 0.995 D 0.729 deleterious None None None None N
L/V 0.3495 ambiguous 0.3408 ambiguous -1.029 Destabilizing 0.807 D 0.554 neutral D 0.582627258 None None N
L/W 0.976 likely_pathogenic 0.9804 pathogenic -1.55 Destabilizing 1.0 D 0.741 deleterious None None None None N
L/Y 0.9842 likely_pathogenic 0.9869 pathogenic -1.193 Destabilizing 0.998 D 0.711 prob.delet. 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.