Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2597378142;78143;78144 chr2:178568215;178568214;178568213chr2:179432942;179432941;179432940
N2AB2433273219;73220;73221 chr2:178568215;178568214;178568213chr2:179432942;179432941;179432940
N2A2340570438;70439;70440 chr2:178568215;178568214;178568213chr2:179432942;179432941;179432940
N2B1690850947;50948;50949 chr2:178568215;178568214;178568213chr2:179432942;179432941;179432940
Novex-11703351322;51323;51324 chr2:178568215;178568214;178568213chr2:179432942;179432941;179432940
Novex-21710051523;51524;51525 chr2:178568215;178568214;178568213chr2:179432942;179432941;179432940
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Q
  • RefSeq wild type transcript codon: CAA
  • RefSeq wild type template codon: GTT
  • Domain: Fn3-76
  • Domain position: 84
  • Structural Position: 117
  • Q(SASA): 0.45
  • 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
Q/L rs1481076140 0.044 0.064 N 0.564 0.194 0.293147016451 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
Q/L rs1481076140 0.044 0.064 N 0.564 0.194 0.293147016451 gnomAD-4.0.0 3.18343E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.86558E-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
Q/A 0.2358 likely_benign 0.2286 benign -0.786 Destabilizing 0.345 N 0.5 neutral None None None None I
Q/C 0.5115 ambiguous 0.5049 ambiguous -0.162 Destabilizing 0.991 D 0.608 neutral None None None None I
Q/D 0.6738 likely_pathogenic 0.656 pathogenic -0.164 Destabilizing 0.722 D 0.416 neutral None None None None I
Q/E 0.1334 likely_benign 0.1287 benign -0.056 Destabilizing 0.285 N 0.343 neutral N 0.399363474 None None I
Q/F 0.7049 likely_pathogenic 0.692 pathogenic -0.397 Destabilizing 0.818 D 0.607 neutral None None None None I
Q/G 0.3904 ambiguous 0.3763 ambiguous -1.138 Destabilizing 0.722 D 0.559 neutral None None None None I
Q/H 0.2315 likely_benign 0.2181 benign -0.69 Destabilizing 0.873 D 0.546 neutral N 0.485542451 None None I
Q/I 0.3312 likely_benign 0.3486 ambiguous 0.116 Stabilizing 0.004 N 0.498 neutral None None None None I
Q/K 0.067 likely_benign 0.0667 benign -0.269 Destabilizing 0.002 N 0.203 neutral N 0.35667149 None None I
Q/L 0.1445 likely_benign 0.1403 benign 0.116 Stabilizing 0.064 N 0.564 neutral N 0.40307857 None None I
Q/M 0.3654 ambiguous 0.3601 ambiguous 0.415 Stabilizing 0.818 D 0.537 neutral None None None None I
Q/N 0.4048 ambiguous 0.3938 ambiguous -0.837 Destabilizing 0.561 D 0.434 neutral None None None None I
Q/P 0.1485 likely_benign 0.1449 benign -0.154 Destabilizing 0.856 D 0.578 neutral N 0.421531045 None None I
Q/R 0.0843 likely_benign 0.0806 benign -0.145 Destabilizing 0.001 N 0.211 neutral N 0.403233286 None None I
Q/S 0.3191 likely_benign 0.308 benign -1.028 Destabilizing 0.345 N 0.409 neutral None None None None I
Q/T 0.2097 likely_benign 0.2055 benign -0.715 Destabilizing 0.561 D 0.485 neutral None None None None I
Q/V 0.2218 likely_benign 0.2353 benign -0.154 Destabilizing 0.083 N 0.569 neutral None None None None I
Q/W 0.6884 likely_pathogenic 0.6493 pathogenic -0.195 Destabilizing 0.991 D 0.61 neutral None None None None I
Q/Y 0.5095 ambiguous 0.4909 ambiguous -0.009 Destabilizing 0.901 D 0.579 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.