Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC592718004;18005;18006 chr2:178730754;178730753;178730752chr2:179595481;179595480;179595479
N2AB561017053;17054;17055 chr2:178730754;178730753;178730752chr2:179595481;179595480;179595479
N2A468314272;14273;14274 chr2:178730754;178730753;178730752chr2:179595481;179595480;179595479
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: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Ig-43
  • Domain position: 9
  • Structural Position: 11
  • Q(SASA): 0.7696
  • 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
K/Q None None 0.31 N 0.167 0.108 0.115124310173 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 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
K/A 0.2874 likely_benign 0.2976 benign -0.032 Destabilizing 0.863 D 0.353 neutral None None None None N
K/C 0.7883 likely_pathogenic 0.782 pathogenic 0.024 Stabilizing 0.999 D 0.437 neutral None None None None N
K/D 0.3571 ambiguous 0.3991 ambiguous 0.023 Stabilizing 0.884 D 0.37 neutral None None None None N
K/E 0.1412 likely_benign 0.1582 benign 0.053 Stabilizing 0.134 N 0.177 neutral N 0.3996804 None None N
K/F 0.8018 likely_pathogenic 0.8112 pathogenic -0.051 Destabilizing 0.997 D 0.439 neutral None None None None N
K/G 0.3927 ambiguous 0.4118 ambiguous -0.291 Destabilizing 0.969 D 0.453 neutral None None None None N
K/H 0.328 likely_benign 0.3225 benign -0.658 Destabilizing 0.991 D 0.405 neutral None None None None N
K/I 0.3976 ambiguous 0.4267 ambiguous 0.59 Stabilizing 0.996 D 0.447 neutral N 0.493110637 None None N
K/L 0.3938 ambiguous 0.4058 ambiguous 0.59 Stabilizing 0.939 D 0.464 neutral None None None None N
K/M 0.2338 likely_benign 0.2424 benign 0.403 Stabilizing 0.997 D 0.402 neutral None None None None N
K/N 0.2544 likely_benign 0.2809 benign 0.29 Stabilizing 0.959 D 0.39 neutral N 0.386441744 None None N
K/P 0.3514 ambiguous 0.3771 ambiguous 0.412 Stabilizing 0.046 N 0.215 neutral None None None None N
K/Q 0.123 likely_benign 0.1226 benign 0.135 Stabilizing 0.31 N 0.167 neutral N 0.45001322 None None N
K/R 0.0962 likely_benign 0.0942 benign -0.125 Destabilizing 0.92 D 0.388 neutral N 0.446972915 None None N
K/S 0.3176 likely_benign 0.3386 benign -0.187 Destabilizing 0.939 D 0.329 neutral None None None None N
K/T 0.1537 likely_benign 0.1667 benign 0.003 Stabilizing 0.959 D 0.423 neutral N 0.433080898 None None N
K/V 0.3396 likely_benign 0.362 ambiguous 0.412 Stabilizing 0.969 D 0.455 neutral None None None None N
K/W 0.8199 likely_pathogenic 0.8184 pathogenic -0.043 Destabilizing 0.999 D 0.515 neutral None None None None N
K/Y 0.6387 likely_pathogenic 0.6426 pathogenic 0.276 Stabilizing 0.997 D 0.427 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.