Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC31139562;9563;9564 chr2:178767893;178767892;178767891chr2:179632620;179632619;179632618
N2AB31139562;9563;9564 chr2:178767893;178767892;178767891chr2:179632620;179632619;179632618
N2A31139562;9563;9564 chr2:178767893;178767892;178767891chr2:179632620;179632619;179632618
N2B30679424;9425;9426 chr2:178767893;178767892;178767891chr2:179632620;179632619;179632618
Novex-130679424;9425;9426 chr2:178767893;178767892;178767891chr2:179632620;179632619;179632618
Novex-230679424;9425;9426 chr2:178767893;178767892;178767891chr2:179632620;179632619;179632618
Novex-331139562;9563;9564 chr2:178767893;178767892;178767891chr2:179632620;179632619;179632618

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: CGC
  • RefSeq wild type template codon: GCG
  • Domain: Ig-21
  • Domain position: 56
  • Structural Position: 137
  • Q(SASA): 0.2698
  • 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/C rs751998418 -1.249 1.0 D 0.75 0.684 None gnomAD-2.1.1 1.77E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.88E-05 0
R/C rs751998418 -1.249 1.0 D 0.75 0.684 None gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
R/C rs751998418 -1.249 1.0 D 0.75 0.684 None gnomAD-4.0.0 1.98273E-05 None None None None N None 0 0 None 3.37769E-05 0 None 0 0 2.62709E-05 0 0
R/H rs141258018 -1.737 1.0 D 0.667 0.494 None gnomAD-2.1.1 4.78032E-04 None None None None N None 0 0 None 0 5.93681E-03 None 3.92029E-04 None 0 2.33E-05 2.77239E-04
R/H rs141258018 -1.737 1.0 D 0.667 0.494 None gnomAD-3.1.2 3.22144E-04 None None None None N None 0 1.30941E-04 0 0 8.10498E-03 None 0 0 0 1.03777E-03 0
R/H rs141258018 -1.737 1.0 D 0.667 0.494 None 1000 genomes 1.39776E-03 None None None None N None 0 0 None None 6E-03 0 None None None 1E-03 None
R/H rs141258018 -1.737 1.0 D 0.667 0.494 None gnomAD-4.0.0 3.09165E-04 None None None None N None 1.33291E-05 3.33278E-05 None 0 9.36914E-03 None 0 1.64962E-04 1.35593E-05 5.38036E-04 1.59985E-04
R/S rs751998418 None 0.996 N 0.66 0.639 0.557753153394 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78469E-04
R/S rs751998418 None 0.996 N 0.66 0.639 0.557753153394 gnomAD-4.0.0 6.57289E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 4.78469E-04

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 0.9326 likely_pathogenic 0.9563 pathogenic -1.126 Destabilizing 0.992 D 0.627 neutral None None None None N
R/C 0.4886 ambiguous 0.5558 ambiguous -1.196 Destabilizing 1.0 D 0.75 deleterious D 0.566647418 None None N
R/D 0.9874 likely_pathogenic 0.9911 pathogenic -0.533 Destabilizing 0.999 D 0.755 deleterious None None None None N
R/E 0.8855 likely_pathogenic 0.925 pathogenic -0.356 Destabilizing 0.992 D 0.599 neutral None None None None N
R/F 0.9304 likely_pathogenic 0.9482 pathogenic -0.529 Destabilizing 1.0 D 0.789 deleterious None None None None N
R/G 0.9012 likely_pathogenic 0.927 pathogenic -1.488 Destabilizing 0.998 D 0.702 prob.neutral D 0.552922718 None None N
R/H 0.2111 likely_benign 0.2557 benign -1.523 Destabilizing 1.0 D 0.667 neutral D 0.539205149 None None N
R/I 0.7575 likely_pathogenic 0.8236 pathogenic -0.118 Destabilizing 1.0 D 0.786 deleterious None None None None N
R/K 0.2434 likely_benign 0.319 benign -1.209 Destabilizing 0.611 D 0.317 neutral None None None None N
R/L 0.7442 likely_pathogenic 0.8145 pathogenic -0.118 Destabilizing 0.998 D 0.702 prob.neutral D 0.57923027 None None N
R/M 0.8049 likely_pathogenic 0.8738 pathogenic -0.544 Destabilizing 1.0 D 0.709 prob.delet. None None None None N
R/N 0.9482 likely_pathogenic 0.9663 pathogenic -0.915 Destabilizing 0.999 D 0.629 neutral None None None None N
R/P 0.9986 likely_pathogenic 0.9988 pathogenic -0.436 Destabilizing 1.0 D 0.757 deleterious D 0.693507859 None None N
R/Q 0.2578 likely_benign 0.3414 ambiguous -0.852 Destabilizing 0.998 D 0.622 neutral None None None None N
R/S 0.9182 likely_pathogenic 0.9387 pathogenic -1.643 Destabilizing 0.996 D 0.66 neutral N 0.497899122 None None N
R/T 0.7728 likely_pathogenic 0.8554 pathogenic -1.265 Destabilizing 0.999 D 0.706 prob.neutral None None None None N
R/V 0.8198 likely_pathogenic 0.8713 pathogenic -0.436 Destabilizing 0.999 D 0.776 deleterious None None None None N
R/W 0.6033 likely_pathogenic 0.6292 pathogenic -0.145 Destabilizing 1.0 D 0.715 prob.delet. None None None None N
R/Y 0.8093 likely_pathogenic 0.8361 pathogenic 0.102 Stabilizing 1.0 D 0.768 deleterious 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.