Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC949828717;28718;28719 chr2:178709827;178709826;178709825chr2:179574554;179574553;179574552
N2AB918127766;27767;27768 chr2:178709827;178709826;178709825chr2:179574554;179574553;179574552
N2A825424985;24986;24987 chr2:178709827;178709826;178709825chr2:179574554;179574553;179574552
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: AGA
  • RefSeq wild type template codon: TCT
  • Domain: Ig-81
  • Domain position: 6
  • Structural Position: 7
  • Q(SASA): 0.3884
  • 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
R/G rs757471312 -1.169 0.024 None 0.31 0.171 0.471620082127 gnomAD-2.1.1 8.05E-06 None None None None N None 1.29282E-04 0 None 0 0 None 0 None 0 0 0
R/G rs757471312 -1.169 0.024 None 0.31 0.171 0.471620082127 gnomAD-4.0.0 3.18919E-06 None None None None N None 1.13507E-04 0 None 0 0 None 0 0 0 0 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
R/A 0.2911 likely_benign 0.486 ambiguous -0.099 Destabilizing 0.007 N 0.255 neutral None None None None N
R/C 0.2892 likely_benign 0.5241 ambiguous -0.334 Destabilizing 0.864 D 0.307 neutral None None None None N
R/D 0.5934 likely_pathogenic 0.7587 pathogenic -0.067 Destabilizing 0.031 N 0.336 neutral None None None None N
R/E 0.3142 likely_benign 0.4039 ambiguous 0.027 Stabilizing 0.007 N 0.134 neutral None None None None N
R/F 0.509 ambiguous 0.7589 pathogenic -0.258 Destabilizing 0.628 D 0.34 neutral None None None None N
R/G 0.2057 likely_benign 0.2156 benign -0.315 Destabilizing 0.024 N 0.31 neutral None None None None N
R/H 0.1346 likely_benign 0.2447 benign -0.889 Destabilizing 0.356 N 0.268 neutral None None None None N
R/I 0.2448 likely_benign 0.439 ambiguous 0.446 Stabilizing 0.106 N 0.399 neutral None None None None N
R/K 0.0581 likely_benign 0.0509 benign -0.115 Destabilizing None N 0.087 neutral None None None None N
R/L 0.1921 likely_benign 0.358 ambiguous 0.446 Stabilizing 0.031 N 0.31 neutral None None None None N
R/M 0.1978 likely_benign 0.3433 ambiguous -0.125 Destabilizing 0.628 D 0.322 neutral None None None None N
R/N 0.3893 ambiguous 0.5655 pathogenic -0.04 Destabilizing 0.031 N 0.174 neutral None None None None N
R/P 0.2332 likely_benign 0.3717 ambiguous 0.285 Stabilizing 0.136 N 0.357 neutral None None None None N
R/Q 0.1058 likely_benign 0.1586 benign -0.054 Destabilizing 0.016 N 0.179 neutral None None None None N
R/S 0.3554 ambiguous 0.5724 pathogenic -0.396 Destabilizing 0.012 N 0.315 neutral None None None None N
R/T 0.1926 likely_benign 0.3455 ambiguous -0.148 Destabilizing 0.024 N 0.307 neutral None None None None N
R/V 0.2901 likely_benign 0.4781 ambiguous 0.285 Stabilizing 0.072 N 0.381 neutral None None None None N
R/W 0.2517 likely_benign 0.4598 ambiguous -0.311 Destabilizing 0.864 D 0.31 neutral None None None None N
R/Y 0.3851 ambiguous 0.6148 pathogenic 0.093 Stabilizing 0.356 N 0.363 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.