Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1540246429;46430;46431 chr2:178620317;178620316;178620315chr2:179485044;179485043;179485042
N2AB1376141506;41507;41508 chr2:178620317;178620316;178620315chr2:179485044;179485043;179485042
N2A1283438725;38726;38727 chr2:178620317;178620316;178620315chr2:179485044;179485043;179485042
N2B633719234;19235;19236 chr2:178620317;178620316;178620315chr2:179485044;179485043;179485042
Novex-1646219609;19610;19611 chr2:178620317;178620316;178620315chr2:179485044;179485043;179485042
Novex-2652919810;19811;19812 chr2:178620317;178620316;178620315chr2:179485044;179485043;179485042
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Ig-106
  • Domain position: 12
  • Structural Position: 16
  • Q(SASA): 0.3253
  • 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
V/A rs1559868004 -0.948 0.948 N 0.433 0.623 0.690019882811 gnomAD-2.1.1 4.38E-06 None None None None N None 0 0 None 0 0 None 3.99E-05 None 0 0 0
V/A rs1559868004 -0.948 0.948 N 0.433 0.623 0.690019882811 gnomAD-4.0.0 5.58645E-06 None None None None N None 0 0 None 0 0 None 0 0 0 9.91105E-05 0
V/I None None 0.198 N 0.205 0.22 0.59161276173 gnomAD-4.0.0 3.32775E-06 None None None None N None 0 0 None 0 0 None 0 0 0 3.09789E-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
V/A 0.7096 likely_pathogenic 0.7432 pathogenic -0.97 Destabilizing 0.948 D 0.433 neutral N 0.503397285 None None N
V/C 0.9452 likely_pathogenic 0.9526 pathogenic -0.639 Destabilizing 1.0 D 0.53 neutral None None None None N
V/D 0.9892 likely_pathogenic 0.9915 pathogenic -0.771 Destabilizing 0.999 D 0.64 neutral D 0.699449773 None None N
V/E 0.9469 likely_pathogenic 0.9592 pathogenic -0.874 Destabilizing 0.999 D 0.578 neutral None None None None N
V/F 0.8275 likely_pathogenic 0.8543 pathogenic -1.19 Destabilizing 0.997 D 0.546 neutral D 0.595300086 None None N
V/G 0.8942 likely_pathogenic 0.8986 pathogenic -1.154 Destabilizing 0.999 D 0.647 neutral D 0.607525672 None None N
V/H 0.9876 likely_pathogenic 0.9921 pathogenic -0.799 Destabilizing 1.0 D 0.633 neutral None None None None N
V/I 0.124 likely_benign 0.1214 benign -0.613 Destabilizing 0.198 N 0.205 neutral N 0.515046642 None None N
V/K 0.9109 likely_pathogenic 0.9429 pathogenic -0.658 Destabilizing 0.999 D 0.583 neutral None None None None N
V/L 0.6944 likely_pathogenic 0.731 pathogenic -0.613 Destabilizing 0.9 D 0.334 neutral D 0.573501378 None None N
V/M 0.6103 likely_pathogenic 0.6438 pathogenic -0.351 Destabilizing 0.998 D 0.548 neutral None None None None N
V/N 0.9693 likely_pathogenic 0.9775 pathogenic -0.319 Destabilizing 0.999 D 0.65 neutral None None None None N
V/P 0.9964 likely_pathogenic 0.9979 pathogenic -0.697 Destabilizing 0.999 D 0.573 neutral None None None None N
V/Q 0.9288 likely_pathogenic 0.9521 pathogenic -0.629 Destabilizing 0.999 D 0.586 neutral None None None None N
V/R 0.8892 likely_pathogenic 0.9262 pathogenic -0.11 Destabilizing 0.999 D 0.653 neutral None None None None N
V/S 0.9135 likely_pathogenic 0.93 pathogenic -0.721 Destabilizing 0.999 D 0.574 neutral None None None None N
V/T 0.7424 likely_pathogenic 0.776 pathogenic -0.728 Destabilizing 0.992 D 0.495 neutral None None None None N
V/W 0.9972 likely_pathogenic 0.9978 pathogenic -1.264 Destabilizing 1.0 D 0.609 neutral None None None None N
V/Y 0.9824 likely_pathogenic 0.9867 pathogenic -0.956 Destabilizing 0.999 D 0.543 neutral 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.