Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC658919990;19991;19992 chr2:178727813;178727812;178727811chr2:179592540;179592539;179592538
N2AB627219039;19040;19041 chr2:178727813;178727812;178727811chr2:179592540;179592539;179592538
N2A534516258;16259;16260 chr2:178727813;178727812;178727811chr2:179592540;179592539;179592538
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: S
  • RefSeq wild type transcript codon: TCT
  • RefSeq wild type template codon: AGA
  • Domain: Ig-50
  • Domain position: 16
  • Structural Position: 25
  • Q(SASA): 0.2276
  • 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
S/C rs1206769574 -0.79 0.999 N 0.345 0.332 0.321108458156 gnomAD-2.1.1 4.04E-06 None None None None N None 6.48E-05 0 None 0 0 None 0 None 0 0 0
S/C rs1206769574 -0.79 0.999 N 0.345 0.332 0.321108458156 gnomAD-4.0.0 6.84978E-07 None None None None N None 2.99365E-05 0 None 0 0 None 0 0 0 0 0
S/Y None None 0.996 N 0.428 0.386 0.504907739247 gnomAD-4.0.0 6.84978E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00182E-07 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
S/A 0.1 likely_benign 0.0929 benign -0.721 Destabilizing 0.061 N 0.133 neutral N 0.471794002 None None N
S/C 0.2076 likely_benign 0.1936 benign -0.496 Destabilizing 0.999 D 0.345 neutral N 0.479204873 None None N
S/D 0.5186 ambiguous 0.463 ambiguous -0.201 Destabilizing 0.969 D 0.341 neutral None None None None N
S/E 0.6323 likely_pathogenic 0.5894 pathogenic -0.248 Destabilizing 0.969 D 0.35 neutral None None None None N
S/F 0.3948 ambiguous 0.3188 benign -1.113 Destabilizing 0.996 D 0.435 neutral N 0.490725763 None None N
S/G 0.136 likely_benign 0.1213 benign -0.906 Destabilizing 0.02 N 0.135 neutral None None None None N
S/H 0.5393 ambiguous 0.4923 ambiguous -1.441 Destabilizing 0.999 D 0.346 neutral None None None None N
S/I 0.4052 ambiguous 0.3421 ambiguous -0.345 Destabilizing 0.982 D 0.434 neutral None None None None N
S/K 0.7956 likely_pathogenic 0.7437 pathogenic -0.665 Destabilizing 0.939 D 0.342 neutral None None None None N
S/L 0.1787 likely_benign 0.1456 benign -0.345 Destabilizing 0.939 D 0.43 neutral None None None None N
S/M 0.3068 likely_benign 0.2748 benign 0.043 Stabilizing 0.997 D 0.348 neutral None None None None N
S/N 0.2618 likely_benign 0.2157 benign -0.516 Destabilizing 0.969 D 0.379 neutral None None None None N
S/P 0.9017 likely_pathogenic 0.8983 pathogenic -0.439 Destabilizing 0.988 D 0.333 neutral N 0.490218784 None None N
S/Q 0.6263 likely_pathogenic 0.6085 pathogenic -0.781 Destabilizing 0.997 D 0.371 neutral None None None None N
S/R 0.7315 likely_pathogenic 0.6656 pathogenic -0.476 Destabilizing 0.991 D 0.347 neutral None None None None N
S/T 0.1018 likely_benign 0.0883 benign -0.599 Destabilizing 0.061 N 0.129 neutral N 0.469465773 None None N
S/V 0.3285 likely_benign 0.2953 benign -0.439 Destabilizing 0.939 D 0.426 neutral None None None None N
S/W 0.5907 likely_pathogenic 0.5484 ambiguous -1.044 Destabilizing 0.999 D 0.512 neutral None None None None N
S/Y 0.338 likely_benign 0.2768 benign -0.792 Destabilizing 0.996 D 0.428 neutral N 0.478951384 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.