Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2624078943;78944;78945 chr2:178567414;178567413;178567412chr2:179432141;179432140;179432139
N2AB2459974020;74021;74022 chr2:178567414;178567413;178567412chr2:179432141;179432140;179432139
N2A2367271239;71240;71241 chr2:178567414;178567413;178567412chr2:179432141;179432140;179432139
N2B1717551748;51749;51750 chr2:178567414;178567413;178567412chr2:179432141;179432140;179432139
Novex-11730052123;52124;52125 chr2:178567414;178567413;178567412chr2:179432141;179432140;179432139
Novex-21736752324;52325;52326 chr2:178567414;178567413;178567412chr2:179432141;179432140;179432139
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: C
  • RefSeq wild type transcript codon: TGT
  • RefSeq wild type template codon: ACA
  • Domain: Ig-137
  • Domain position: 48
  • Structural Position: 121
  • Q(SASA): 0.1512
  • 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
C/Y rs1575695077 None None N 0.273 0.093 0.220303561663 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
C/Y rs1575695077 None None N 0.273 0.093 0.220303561663 gnomAD-4.0.0 3.11452E-06 None None None None N None 0 3.41227E-05 None 0 0 None 0 0 2.54993E-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
C/A 0.4696 ambiguous 0.3598 ambiguous -1.468 Destabilizing None N 0.101 neutral None None None None N
C/D 0.9016 likely_pathogenic 0.8009 pathogenic -0.993 Destabilizing 0.018 N 0.551 neutral None None None None N
C/E 0.8833 likely_pathogenic 0.789 pathogenic -0.859 Destabilizing 0.018 N 0.477 neutral None None None None N
C/F 0.1999 likely_benign 0.1238 benign -0.911 Destabilizing None N 0.288 neutral N 0.418539173 None None N
C/G 0.3534 ambiguous 0.2746 benign -1.784 Destabilizing 0.003 N 0.433 neutral N 0.486169674 None None N
C/H 0.5484 ambiguous 0.3772 ambiguous -2.095 Highly Destabilizing 0.138 N 0.6 neutral None None None None N
C/I 0.3877 ambiguous 0.2792 benign -0.654 Destabilizing 0.009 N 0.384 neutral None None None None N
C/K 0.8243 likely_pathogenic 0.6995 pathogenic -1.092 Destabilizing 0.018 N 0.479 neutral None None None None N
C/L 0.353 ambiguous 0.2802 benign -0.654 Destabilizing None N 0.215 neutral None None None None N
C/M 0.4572 ambiguous 0.3785 ambiguous 0.096 Stabilizing 0.138 N 0.562 neutral None None None None N
C/N 0.6538 likely_pathogenic 0.4727 ambiguous -1.21 Destabilizing 0.044 N 0.57 neutral None None None None N
C/P 0.9935 likely_pathogenic 0.9851 pathogenic -0.899 Destabilizing 0.085 N 0.611 neutral None None None None N
C/Q 0.6697 likely_pathogenic 0.5224 ambiguous -1.055 Destabilizing 0.044 N 0.619 neutral None None None None N
C/R 0.5364 ambiguous 0.3941 ambiguous -1.164 Destabilizing 0.033 N 0.595 neutral N 0.449171511 None None N
C/S 0.3827 ambiguous 0.2752 benign -1.606 Destabilizing None N 0.216 neutral N 0.463274172 None None N
C/T 0.403 ambiguous 0.2971 benign -1.3 Destabilizing 0.004 N 0.381 neutral None None None None N
C/V 0.3278 likely_benign 0.2393 benign -0.899 Destabilizing 0.004 N 0.356 neutral None None None None N
C/W 0.4409 ambiguous 0.3128 benign -1.111 Destabilizing 0.196 N 0.549 neutral N 0.491711567 None None N
C/Y 0.2401 likely_benign 0.1304 benign -0.973 Destabilizing None N 0.273 neutral N 0.391179213 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.