Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC77454;455;456 chr2:178802204;178802203;178802202chr2:179666931;179666930;179666929
N2AB77454;455;456 chr2:178802204;178802203;178802202chr2:179666931;179666930;179666929
N2A77454;455;456 chr2:178802204;178802203;178802202chr2:179666931;179666930;179666929
N2B77454;455;456 chr2:178802204;178802203;178802202chr2:179666931;179666930;179666929
Novex-177454;455;456 chr2:178802204;178802203;178802202chr2:179666931;179666930;179666929
Novex-277454;455;456 chr2:178802204;178802203;178802202chr2:179666931;179666930;179666929
Novex-377454;455;456 chr2:178802204;178802203;178802202chr2:179666931;179666930;179666929

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: CGA
  • RefSeq wild type template codon: GCT
  • Domain: Ig-1
  • Domain position: 72
  • Structural Position: 153
  • Q(SASA): 0.692
  • 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
R/Q rs727503709 0.097 0.991 N 0.665 0.263 0.232513804876 gnomAD-2.1.1 7.96E-06 None None None -0.385(TCAP) N None 0 0 None 0 0 None 0 None 0 1.76E-05 0
R/Q rs727503709 0.097 0.991 N 0.665 0.263 0.232513804876 gnomAD-4.0.0 4.10435E-06 None None None -0.385(TCAP) N None 2.98686E-05 0 None 0 0 None 0 0 2.69788E-06 2.31868E-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
R/A 0.4745 ambiguous 0.4387 ambiguous -0.762 Destabilizing 0.91 D 0.635 neutral None None None -0.59(TCAP) N
R/C 0.327 likely_benign 0.3031 benign -0.718 Destabilizing 0.999 D 0.744 deleterious None None None -0.44(TCAP) N
R/D 0.7771 likely_pathogenic 0.7434 pathogenic -0.174 Destabilizing 0.973 D 0.71 prob.delet. None None None -0.212(TCAP) N
R/E 0.4483 ambiguous 0.4274 ambiguous -0.106 Destabilizing 0.604 D 0.599 neutral None None None -0.275(TCAP) N
R/F 0.5964 likely_pathogenic 0.5571 ambiguous -0.95 Destabilizing 0.989 D 0.755 deleterious None None None -0.628(TCAP) N
R/G 0.3884 ambiguous 0.3448 ambiguous -0.991 Destabilizing 0.951 D 0.661 neutral N 0.511520137 None -0.502(TCAP) N
R/H 0.0989 likely_benign 0.0941 benign -1.261 Destabilizing 0.989 D 0.664 neutral None None None -0.284(TCAP) N
R/I 0.2303 likely_benign 0.2164 benign -0.172 Destabilizing 0.968 D 0.761 deleterious None None None -0.853(TCAP) N
R/K 0.1451 likely_benign 0.136 benign -0.755 Destabilizing 0.002 N 0.246 neutral None None None -0.267(TCAP) N
R/L 0.232 likely_benign 0.2194 benign -0.172 Destabilizing 0.89 D 0.661 neutral N 0.425351105 None -0.853(TCAP) N
R/M 0.3702 ambiguous 0.3309 benign -0.284 Destabilizing 0.997 D 0.722 prob.delet. None None None -0.335(TCAP) N
R/N 0.5865 likely_pathogenic 0.5423 ambiguous -0.172 Destabilizing 0.973 D 0.646 neutral None None None -0.311(TCAP) N
R/P 0.721 likely_pathogenic 0.6705 pathogenic -0.349 Destabilizing 0.993 D 0.754 deleterious N 0.509838353 None -0.767(TCAP) N
R/Q 0.1135 likely_benign 0.1078 benign -0.486 Destabilizing 0.991 D 0.665 neutral N 0.433174037 None -0.385(TCAP) N
R/S 0.4733 ambiguous 0.4483 ambiguous -0.91 Destabilizing 0.91 D 0.67 neutral None None None -0.128(TCAP) N
R/T 0.2302 likely_benign 0.2153 benign -0.694 Destabilizing 0.91 D 0.698 prob.neutral None None None -0.196(TCAP) N
R/V 0.3414 ambiguous 0.3257 benign -0.349 Destabilizing 0.956 D 0.749 deleterious None None None -0.767(TCAP) N
R/W 0.244 likely_benign 0.2196 benign -0.699 Destabilizing 0.999 D 0.72 prob.delet. None None None -0.402(TCAP) N
R/Y 0.4557 ambiguous 0.4136 ambiguous -0.356 Destabilizing 0.989 D 0.748 deleterious None None None -0.441(TCAP) 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.