Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1858055963;55964;55965 chr2:178601166;178601165;178601164chr2:179465893;179465892;179465891
N2AB1693951040;51041;51042 chr2:178601166;178601165;178601164chr2:179465893;179465892;179465891
N2A1601248259;48260;48261 chr2:178601166;178601165;178601164chr2:179465893;179465892;179465891
N2B951528768;28769;28770 chr2:178601166;178601165;178601164chr2:179465893;179465892;179465891
Novex-1964029143;29144;29145 chr2:178601166;178601165;178601164chr2:179465893;179465892;179465891
Novex-2970729344;29345;29346 chr2:178601166;178601165;178601164chr2:179465893;179465892;179465891
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCT
  • RefSeq wild type template codon: GGA
  • Domain: Fn3-23
  • Domain position: 2
  • Structural Position: 2
  • Q(SASA): 0.1285
  • 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
P/S rs528329600 -2.039 1.0 N 0.763 0.495 0.41921206133 gnomAD-2.1.1 7.18E-05 None None None None N None 0 0 None 0 0 None 8.26867E-04 None 0 0 0
P/S rs528329600 -2.039 1.0 N 0.763 0.495 0.41921206133 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.1425E-04 0
P/S rs528329600 -2.039 1.0 N 0.763 0.495 0.41921206133 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
P/S rs528329600 -2.039 1.0 N 0.763 0.495 0.41921206133 gnomAD-4.0.0 6.87109E-05 None None None None N None 0 0 None 0 0 None 0 1.76429E-04 0 1.3097E-03 1.02194E-04

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
P/A 0.8911 likely_pathogenic 0.88 pathogenic -1.553 Destabilizing 0.999 D 0.794 deleterious N 0.516929954 None None N
P/C 0.9908 likely_pathogenic 0.9917 pathogenic -2.22 Highly Destabilizing 1.0 D 0.783 deleterious None None None None N
P/D 0.9995 likely_pathogenic 0.9997 pathogenic -3.536 Highly Destabilizing 1.0 D 0.791 deleterious None None None None N
P/E 0.9983 likely_pathogenic 0.9988 pathogenic -3.427 Highly Destabilizing 1.0 D 0.779 deleterious None None None None N
P/F 0.9998 likely_pathogenic 0.9998 pathogenic -0.818 Destabilizing 1.0 D 0.834 deleterious None None None None N
P/G 0.9934 likely_pathogenic 0.9954 pathogenic -1.88 Destabilizing 1.0 D 0.797 deleterious None None None None N
P/H 0.9984 likely_pathogenic 0.9988 pathogenic -1.295 Destabilizing 1.0 D 0.773 deleterious D 0.544695447 None None N
P/I 0.9954 likely_pathogenic 0.9936 pathogenic -0.682 Destabilizing 1.0 D 0.765 deleterious None None None None N
P/K 0.9987 likely_pathogenic 0.9992 pathogenic -1.61 Destabilizing 1.0 D 0.781 deleterious None None None None N
P/L 0.9825 likely_pathogenic 0.9807 pathogenic -0.682 Destabilizing 1.0 D 0.82 deleterious N 0.51346046 None None N
P/M 0.9976 likely_pathogenic 0.9973 pathogenic -1.139 Destabilizing 1.0 D 0.769 deleterious None None None None N
P/N 0.9993 likely_pathogenic 0.9996 pathogenic -2.108 Highly Destabilizing 1.0 D 0.829 deleterious None None None None N
P/Q 0.9968 likely_pathogenic 0.9978 pathogenic -2.141 Highly Destabilizing 1.0 D 0.839 deleterious None None None None N
P/R 0.9946 likely_pathogenic 0.9964 pathogenic -1.263 Destabilizing 1.0 D 0.821 deleterious D 0.532578673 None None N
P/S 0.9853 likely_pathogenic 0.9871 pathogenic -2.356 Highly Destabilizing 1.0 D 0.763 deleterious N 0.484253389 None None N
P/T 0.9829 likely_pathogenic 0.9822 pathogenic -2.148 Highly Destabilizing 1.0 D 0.772 deleterious N 0.496370163 None None N
P/V 0.9805 likely_pathogenic 0.9713 pathogenic -0.95 Destabilizing 1.0 D 0.82 deleterious None None None None N
P/W 0.9999 likely_pathogenic 0.9999 pathogenic -1.23 Destabilizing 1.0 D 0.751 deleterious None None None None N
P/Y 0.9998 likely_pathogenic 0.9998 pathogenic -0.948 Destabilizing 1.0 D 0.841 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.