Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3232797204;97205;97206 chr2:178542875;178542874;178542873chr2:179407602;179407601;179407600
N2AB3068692281;92282;92283 chr2:178542875;178542874;178542873chr2:179407602;179407601;179407600
N2A2975989500;89501;89502 chr2:178542875;178542874;178542873chr2:179407602;179407601;179407600
N2B2326270009;70010;70011 chr2:178542875;178542874;178542873chr2:179407602;179407601;179407600
Novex-12338770384;70385;70386 chr2:178542875;178542874;178542873chr2:179407602;179407601;179407600
Novex-22345470585;70586;70587 chr2:178542875;178542874;178542873chr2:179407602;179407601;179407600
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTG
  • RefSeq wild type template codon: CAC
  • Domain: Ig-154
  • Domain position: 21
  • Structural Position: 31
  • Q(SASA): 0.3663
  • 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 None None None N 0.154 0.071 0.451023696535 gnomAD-4.0.0 1.36843E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31889E-05 0
V/M rs956461857 -0.325 0.73 N 0.405 0.101 0.571554507246 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
V/M rs956461857 -0.325 0.73 N 0.405 0.101 0.571554507246 gnomAD-4.0.0 6.36519E-06 None None None None N None 0 0 None 0 0 None 0 0 8.5754E-06 0 3.02371E-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
V/A 0.1104 likely_benign 0.1154 benign -1.137 Destabilizing None N 0.154 neutral N 0.447688644 None None N
V/C 0.527 ambiguous 0.5378 ambiguous -0.794 Destabilizing 0.54 D 0.455 neutral None None None None N
V/D 0.1875 likely_benign 0.193 benign -1.122 Destabilizing 0.033 N 0.439 neutral None None None None N
V/E 0.1824 likely_benign 0.1828 benign -1.137 Destabilizing None N 0.311 neutral N 0.344945491 None None N
V/F 0.1497 likely_benign 0.1432 benign -0.863 Destabilizing 0.54 D 0.531 neutral None None None None N
V/G 0.1584 likely_benign 0.1588 benign -1.413 Destabilizing 0.011 N 0.41 neutral N 0.467757272 None None N
V/H 0.3219 likely_benign 0.3188 benign -0.896 Destabilizing 0.54 D 0.515 neutral None None None None N
V/I 0.084 likely_benign 0.0822 benign -0.49 Destabilizing 0.064 N 0.399 neutral None None None None N
V/K 0.2351 likely_benign 0.2487 benign -1.137 Destabilizing 0.033 N 0.422 neutral None None None None N
V/L 0.1354 likely_benign 0.1287 benign -0.49 Destabilizing 0.011 N 0.317 neutral N 0.414885579 None None N
V/M 0.1331 likely_benign 0.1269 benign -0.465 Destabilizing 0.73 D 0.405 neutral N 0.486689749 None None N
V/N 0.1323 likely_benign 0.1386 benign -0.92 Destabilizing None N 0.385 neutral None None None None N
V/P 0.4788 ambiguous 0.4363 ambiguous -0.671 Destabilizing 0.251 N 0.559 neutral None None None None N
V/Q 0.1958 likely_benign 0.1986 benign -1.085 Destabilizing 0.076 N 0.525 neutral None None None None N
V/R 0.2086 likely_benign 0.2182 benign -0.587 Destabilizing 0.001 N 0.401 neutral None None None None N
V/S 0.1077 likely_benign 0.1161 benign -1.34 Destabilizing 0.003 N 0.315 neutral None None None None N
V/T 0.1057 likely_benign 0.1119 benign -1.249 Destabilizing None N 0.139 neutral None None None None N
V/W 0.7104 likely_pathogenic 0.7039 pathogenic -1.045 Destabilizing 0.931 D 0.523 neutral None None None None N
V/Y 0.4006 ambiguous 0.3948 ambiguous -0.759 Destabilizing 0.781 D 0.529 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.