Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3089892917;92918;92919 chr2:178548934;178548933;178548932chr2:179413661;179413660;179413659
N2AB2925787994;87995;87996 chr2:178548934;178548933;178548932chr2:179413661;179413660;179413659
N2A2833085213;85214;85215 chr2:178548934;178548933;178548932chr2:179413661;179413660;179413659
N2B2183365722;65723;65724 chr2:178548934;178548933;178548932chr2:179413661;179413660;179413659
Novex-12195866097;66098;66099 chr2:178548934;178548933;178548932chr2:179413661;179413660;179413659
Novex-22202566298;66299;66300 chr2:178548934;178548933;178548932chr2:179413661;179413660;179413659
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCT
  • RefSeq wild type template codon: CGA
  • Domain: Fn3-113
  • Domain position: 78
  • Structural Position: 110
  • Q(SASA): 0.0798
  • 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
A/T None None 1.0 D 0.793 0.8 0.609592032954 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05

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
A/C 0.8408 likely_pathogenic 0.8596 pathogenic -1.826 Destabilizing 1.0 D 0.79 deleterious None None None None N
A/D 0.9965 likely_pathogenic 0.9963 pathogenic -3.072 Highly Destabilizing 1.0 D 0.822 deleterious D 0.582640202 None None N
A/E 0.9953 likely_pathogenic 0.995 pathogenic -2.851 Highly Destabilizing 1.0 D 0.838 deleterious None None None None N
A/F 0.9901 likely_pathogenic 0.9915 pathogenic -0.831 Destabilizing 1.0 D 0.871 deleterious None None None None N
A/G 0.3975 ambiguous 0.4257 ambiguous -2.089 Highly Destabilizing 1.0 D 0.642 neutral D 0.546378785 None None N
A/H 0.9965 likely_pathogenic 0.9968 pathogenic -2.206 Highly Destabilizing 1.0 D 0.851 deleterious None None None None N
A/I 0.967 likely_pathogenic 0.9676 pathogenic -0.405 Destabilizing 1.0 D 0.842 deleterious None None None None N
A/K 0.9989 likely_pathogenic 0.9989 pathogenic -1.564 Destabilizing 1.0 D 0.837 deleterious None None None None N
A/L 0.9326 likely_pathogenic 0.93 pathogenic -0.405 Destabilizing 1.0 D 0.793 deleterious None None None None N
A/M 0.9597 likely_pathogenic 0.9596 pathogenic -0.924 Destabilizing 1.0 D 0.851 deleterious None None None None N
A/N 0.9873 likely_pathogenic 0.9873 pathogenic -2.004 Highly Destabilizing 1.0 D 0.855 deleterious None None None None N
A/P 0.9243 likely_pathogenic 0.9377 pathogenic -0.78 Destabilizing 1.0 D 0.849 deleterious D 0.570776917 None None N
A/Q 0.9901 likely_pathogenic 0.9902 pathogenic -1.771 Destabilizing 1.0 D 0.859 deleterious None None None None N
A/R 0.9948 likely_pathogenic 0.9947 pathogenic -1.598 Destabilizing 1.0 D 0.844 deleterious None None None None N
A/S 0.2553 likely_benign 0.2729 benign -2.352 Highly Destabilizing 1.0 D 0.631 neutral D 0.522741122 None None N
A/T 0.7333 likely_pathogenic 0.7322 pathogenic -2.022 Highly Destabilizing 1.0 D 0.793 deleterious D 0.563268499 None None N
A/V 0.8205 likely_pathogenic 0.8234 pathogenic -0.78 Destabilizing 1.0 D 0.711 prob.delet. D 0.563015009 None None N
A/W 0.9991 likely_pathogenic 0.9993 pathogenic -1.548 Destabilizing 1.0 D 0.831 deleterious None None None None N
A/Y 0.9959 likely_pathogenic 0.9967 pathogenic -1.148 Destabilizing 1.0 D 0.871 deleterious None None 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.