Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1623448925;48926;48927 chr2:178614907;178614906;178614905chr2:179479634;179479633;179479632
N2AB1459344002;44003;44004 chr2:178614907;178614906;178614905chr2:179479634;179479633;179479632
N2A1366641221;41222;41223 chr2:178614907;178614906;178614905chr2:179479634;179479633;179479632
N2B716921730;21731;21732 chr2:178614907;178614906;178614905chr2:179479634;179479633;179479632
Novex-1729422105;22106;22107 chr2:178614907;178614906;178614905chr2:179479634;179479633;179479632
Novex-2736122306;22307;22308 chr2:178614907;178614906;178614905chr2:179479634;179479633;179479632
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: AGG
  • RefSeq wild type template codon: TCC
  • Domain: Fn3-5
  • Domain position: 80
  • Structural Position: 113
  • Q(SASA): 0.7502
  • 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
R/K None None 0.122 N 0.262 0.11 0.261217442401 gnomAD-4.0.0 6.96339E-07 None None None None I None 0 0 None 0 0 None 0 0 9.10845E-07 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
R/A 0.484 ambiguous 0.3743 ambiguous -0.077 Destabilizing 0.97 D 0.579 neutral None None None None I
R/C 0.3232 likely_benign 0.2605 benign -0.127 Destabilizing 1.0 D 0.667 neutral None None None None I
R/D 0.7695 likely_pathogenic 0.6568 pathogenic -0.122 Destabilizing 0.996 D 0.533 neutral None None None None I
R/E 0.5325 ambiguous 0.4161 ambiguous -0.072 Destabilizing 0.97 D 0.545 neutral None None None None I
R/F 0.6595 likely_pathogenic 0.5858 pathogenic -0.347 Destabilizing 0.999 D 0.609 neutral None None None None I
R/G 0.3519 ambiguous 0.2756 benign -0.258 Destabilizing 0.98 D 0.544 neutral N 0.463763828 None None I
R/H 0.1791 likely_benign 0.1497 benign -0.724 Destabilizing 0.999 D 0.491 neutral None None None None I
R/I 0.3662 ambiguous 0.2842 benign 0.361 Stabilizing 0.999 D 0.61 neutral None None None None I
R/K 0.1135 likely_benign 0.0999 benign -0.096 Destabilizing 0.122 N 0.262 neutral N 0.415246149 None None I
R/L 0.3479 ambiguous 0.2767 benign 0.361 Stabilizing 0.985 D 0.544 neutral None None None None I
R/M 0.4274 ambiguous 0.3398 benign 0.065 Stabilizing 1.0 D 0.529 neutral N 0.483300358 None None I
R/N 0.6813 likely_pathogenic 0.5697 pathogenic 0.214 Stabilizing 0.996 D 0.5 neutral None None None None I
R/P 0.6127 likely_pathogenic 0.511 ambiguous 0.235 Stabilizing 0.999 D 0.595 neutral None None None None I
R/Q 0.1503 likely_benign 0.1247 benign 0.052 Stabilizing 0.991 D 0.514 neutral None None None None I
R/S 0.5625 ambiguous 0.4593 ambiguous -0.17 Destabilizing 0.961 D 0.589 neutral N 0.453123974 None None I
R/T 0.3723 ambiguous 0.2767 benign 0.005 Stabilizing 0.98 D 0.539 neutral N 0.477135767 None None I
R/V 0.4542 ambiguous 0.3624 ambiguous 0.235 Stabilizing 0.996 D 0.601 neutral None None None None I
R/W 0.273 likely_benign 0.2404 benign -0.385 Destabilizing 1.0 D 0.679 prob.neutral D 0.548023518 None None I
R/Y 0.5156 ambiguous 0.4546 ambiguous 0.023 Stabilizing 0.999 D 0.597 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.