Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1422042883;42884;42885 chr2:178633841;178633840;178633839chr2:179498568;179498567;179498566
N2AB1257937960;37961;37962 chr2:178633841;178633840;178633839chr2:179498568;179498567;179498566
N2A1165235179;35180;35181 chr2:178633841;178633840;178633839chr2:179498568;179498567;179498566
N2B515515688;15689;15690 chr2:178633841;178633840;178633839chr2:179498568;179498567;179498566
Novex-1528016063;16064;16065 chr2:178633841;178633840;178633839chr2:179498568;179498567;179498566
Novex-2534716264;16265;16266 chr2:178633841;178633840;178633839chr2:179498568;179498567;179498566
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCC
  • RefSeq wild type template codon: AGG
  • Domain: Ig-92
  • Domain position: 79
  • Structural Position: 169
  • Q(SASA): 0.1036
  • 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
S/F rs777534842 -0.644 0.984 D 0.807 0.422 0.624477516964 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
S/F rs777534842 -0.644 0.984 D 0.807 0.422 0.624477516964 gnomAD-4.0.0 1.36884E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31943E-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
S/A 0.1784 likely_benign 0.1606 benign -0.77 Destabilizing 0.64 D 0.523 neutral N 0.434870136 None None N
S/C 0.1548 likely_benign 0.1575 benign -0.351 Destabilizing 0.999 D 0.75 deleterious N 0.445867316 None None N
S/D 0.8985 likely_pathogenic 0.8988 pathogenic 0.203 Stabilizing 0.919 D 0.681 prob.neutral None None None None N
S/E 0.9463 likely_pathogenic 0.9392 pathogenic 0.223 Stabilizing 0.919 D 0.678 prob.neutral None None None None N
S/F 0.7633 likely_pathogenic 0.7269 pathogenic -0.846 Destabilizing 0.984 D 0.807 deleterious D 0.574440421 None None N
S/G 0.2312 likely_benign 0.2571 benign -1.047 Destabilizing 0.919 D 0.679 prob.neutral None None None None N
S/H 0.8214 likely_pathogenic 0.8144 pathogenic -1.391 Destabilizing 0.999 D 0.751 deleterious None None None None N
S/I 0.6503 likely_pathogenic 0.5825 pathogenic -0.135 Destabilizing 0.976 D 0.789 deleterious None None None None N
S/K 0.9789 likely_pathogenic 0.9757 pathogenic -0.463 Destabilizing 0.919 D 0.679 prob.neutral None None None None N
S/L 0.4184 ambiguous 0.3717 ambiguous -0.135 Destabilizing 0.851 D 0.766 deleterious None None None None N
S/M 0.5052 ambiguous 0.5255 ambiguous 0.05 Stabilizing 0.999 D 0.751 deleterious None None None None N
S/N 0.5912 likely_pathogenic 0.5627 ambiguous -0.406 Destabilizing 0.919 D 0.671 neutral None None None None N
S/P 0.9701 likely_pathogenic 0.9749 pathogenic -0.312 Destabilizing 0.984 D 0.773 deleterious D 0.535538861 None None N
S/Q 0.9074 likely_pathogenic 0.9006 pathogenic -0.481 Destabilizing 0.988 D 0.755 deleterious None None None None N
S/R 0.9646 likely_pathogenic 0.9569 pathogenic -0.447 Destabilizing 0.976 D 0.767 deleterious None None None None N
S/T 0.0729 likely_benign 0.0882 benign -0.477 Destabilizing 0.016 N 0.277 neutral N 0.436612201 None None N
S/V 0.4994 ambiguous 0.4511 ambiguous -0.312 Destabilizing 0.851 D 0.765 deleterious None None None None N
S/W 0.8827 likely_pathogenic 0.8746 pathogenic -0.81 Destabilizing 0.999 D 0.825 deleterious None None None None N
S/Y 0.718 likely_pathogenic 0.6835 pathogenic -0.541 Destabilizing 0.995 D 0.792 deleterious N 0.491751066 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.