Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2365971200;71201;71202 chr2:178575157;178575156;178575155chr2:179439884;179439883;179439882
N2AB2201866277;66278;66279 chr2:178575157;178575156;178575155chr2:179439884;179439883;179439882
N2A2109163496;63497;63498 chr2:178575157;178575156;178575155chr2:179439884;179439883;179439882
N2B1459444005;44006;44007 chr2:178575157;178575156;178575155chr2:179439884;179439883;179439882
Novex-11471944380;44381;44382 chr2:178575157;178575156;178575155chr2:179439884;179439883;179439882
Novex-21478644581;44582;44583 chr2:178575157;178575156;178575155chr2:179439884;179439883;179439882
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGT
  • RefSeq wild type template codon: CCA
  • Domain: Ig-130
  • Domain position: 23
  • Structural Position: 40
  • Q(SASA): 0.3577
  • 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
G/D None None 1.0 D 0.797 0.865 0.620251207734 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/S rs376256345 -0.603 1.0 D 0.815 0.677 None gnomAD-2.1.1 4.68E-05 None None None None I None 4.16E-05 1.42304E-04 None 9.73E-05 5.24E-05 None 6.58E-05 None 0 2.37E-05 0
G/S rs376256345 -0.603 1.0 D 0.815 0.677 None gnomAD-3.1.2 5.92E-05 None None None None I None 2.41E-05 2.6202E-04 0 0 1.93648E-04 None 0 0 4.41E-05 0 0
G/S rs376256345 -0.603 1.0 D 0.815 0.677 None gnomAD-4.0.0 3.41096E-05 None None None None I None 1.33533E-05 2.17036E-04 None 3.38181E-05 2.24175E-05 None 0 0 2.71356E-05 3.2996E-05 6.41046E-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
G/A 0.8168 likely_pathogenic 0.7725 pathogenic -0.401 Destabilizing 1.0 D 0.76 deleterious D 0.565206348 None None I
G/C 0.9628 likely_pathogenic 0.9558 pathogenic -0.803 Destabilizing 1.0 D 0.699 prob.neutral D 0.616094889 None None I
G/D 0.9965 likely_pathogenic 0.996 pathogenic -1.059 Destabilizing 1.0 D 0.797 deleterious D 0.631135589 None None I
G/E 0.9968 likely_pathogenic 0.9967 pathogenic -1.201 Destabilizing 1.0 D 0.774 deleterious None None None None I
G/F 0.9972 likely_pathogenic 0.9967 pathogenic -1.03 Destabilizing 1.0 D 0.753 deleterious None None None None I
G/H 0.9986 likely_pathogenic 0.9985 pathogenic -0.794 Destabilizing 1.0 D 0.683 prob.neutral None None None None I
G/I 0.9947 likely_pathogenic 0.9947 pathogenic -0.45 Destabilizing 1.0 D 0.763 deleterious None None None None I
G/K 0.9988 likely_pathogenic 0.9988 pathogenic -1.193 Destabilizing 1.0 D 0.776 deleterious None None None None I
G/L 0.9926 likely_pathogenic 0.9926 pathogenic -0.45 Destabilizing 1.0 D 0.771 deleterious None None None None I
G/M 0.9977 likely_pathogenic 0.9976 pathogenic -0.521 Destabilizing 1.0 D 0.689 prob.neutral None None None None I
G/N 0.9978 likely_pathogenic 0.9975 pathogenic -0.733 Destabilizing 1.0 D 0.813 deleterious None None None None I
G/P 0.9986 likely_pathogenic 0.9985 pathogenic -0.4 Destabilizing 1.0 D 0.781 deleterious None None None None I
G/Q 0.9972 likely_pathogenic 0.997 pathogenic -1.016 Destabilizing 1.0 D 0.779 deleterious None None None None I
G/R 0.995 likely_pathogenic 0.9946 pathogenic -0.705 Destabilizing 1.0 D 0.782 deleterious D 0.631942806 None None I
G/S 0.921 likely_pathogenic 0.8997 pathogenic -0.797 Destabilizing 1.0 D 0.815 deleterious D 0.57376056 None None I
G/T 0.9884 likely_pathogenic 0.9872 pathogenic -0.885 Destabilizing 1.0 D 0.772 deleterious None None None None I
G/V 0.987 likely_pathogenic 0.9865 pathogenic -0.4 Destabilizing 1.0 D 0.765 deleterious D 0.615691281 None None I
G/W 0.9955 likely_pathogenic 0.9952 pathogenic -1.246 Destabilizing 1.0 D 0.689 prob.neutral None None None None I
G/Y 0.9967 likely_pathogenic 0.9965 pathogenic -0.91 Destabilizing 1.0 D 0.74 deleterious 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.