Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC10033232;3233;3234 chr2:178782899;178782898;178782897chr2:179647626;179647625;179647624
N2AB10033232;3233;3234 chr2:178782899;178782898;178782897chr2:179647626;179647625;179647624
N2A10033232;3233;3234 chr2:178782899;178782898;178782897chr2:179647626;179647625;179647624
N2B9573094;3095;3096 chr2:178782899;178782898;178782897chr2:179647626;179647625;179647624
Novex-19573094;3095;3096 chr2:178782899;178782898;178782897chr2:179647626;179647625;179647624
Novex-29573094;3095;3096 chr2:178782899;178782898;178782897chr2:179647626;179647625;179647624
Novex-310033232;3233;3234 chr2:178782899;178782898;178782897chr2:179647626;179647625;179647624

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: CGC
  • RefSeq wild type template codon: GCG
  • Domain: Ig-3
  • Domain position: 61
  • Structural Position: 141
  • Q(SASA): 0.5685
  • 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 rs774551765 -0.335 1.0 D 0.702 0.54 0.815244402667 gnomAD-2.1.1 1.2E-05 None None None None N None 0 2.89E-05 None 0 5.45E-05 None 0 None 0 8.83E-06 0
R/C rs774551765 -0.335 1.0 D 0.702 0.54 0.815244402667 gnomAD-3.1.2 1.31E-05 None None None None N None 0 6.54E-05 0 0 0 None 0 0 0 0 4.77555E-04
R/C rs774551765 -0.335 1.0 D 0.702 0.54 0.815244402667 gnomAD-4.0.0 2.72623E-05 None None None None N None 0 9.99867E-05 None 0 2.22856E-05 None 0 0 2.62712E-05 1.09786E-05 8.00256E-05
R/H rs1330606775 -1.108 1.0 N 0.723 0.442 0.419461527279 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
R/H rs1330606775 -1.108 1.0 N 0.723 0.442 0.419461527279 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/H rs1330606775 -1.108 1.0 N 0.723 0.442 0.419461527279 gnomAD-4.0.0 4.9568E-06 None None None None N None 1.33511E-05 0 None 0 0 None 0 0 4.23732E-06 2.19578E-05 0
R/S rs774551765 None 1.0 N 0.692 0.494 0.540107908424 gnomAD-4.0.0 1.36817E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79862E-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
R/A 0.9037 likely_pathogenic 0.9572 pathogenic -0.288 Destabilizing 0.999 D 0.61 neutral None None None None N
R/C 0.7365 likely_pathogenic 0.8509 pathogenic -0.285 Destabilizing 1.0 D 0.702 prob.neutral D 0.546709761 None None N
R/D 0.9749 likely_pathogenic 0.9866 pathogenic -0.019 Destabilizing 1.0 D 0.713 prob.delet. None None None None N
R/E 0.8182 likely_pathogenic 0.896 pathogenic 0.065 Stabilizing 0.999 D 0.639 neutral None None None None N
R/F 0.9707 likely_pathogenic 0.9853 pathogenic -0.356 Destabilizing 1.0 D 0.699 prob.neutral None None None None N
R/G 0.7956 likely_pathogenic 0.9028 pathogenic -0.538 Destabilizing 1.0 D 0.641 neutral N 0.512264129 None None N
R/H 0.3925 ambiguous 0.5283 ambiguous -0.935 Destabilizing 1.0 D 0.723 prob.delet. N 0.486720634 None None N
R/I 0.8926 likely_pathogenic 0.9483 pathogenic 0.351 Stabilizing 1.0 D 0.714 prob.delet. None None None None N
R/K 0.338 likely_benign 0.4396 ambiguous -0.331 Destabilizing 0.998 D 0.509 neutral None None None None N
R/L 0.7849 likely_pathogenic 0.8774 pathogenic 0.351 Stabilizing 1.0 D 0.641 neutral N 0.495483596 None None N
R/M 0.8764 likely_pathogenic 0.9433 pathogenic 0.014 Stabilizing 1.0 D 0.693 prob.neutral None None None None N
R/N 0.9487 likely_pathogenic 0.9713 pathogenic 0.116 Stabilizing 1.0 D 0.725 prob.delet. None None None None N
R/P 0.9672 likely_pathogenic 0.9863 pathogenic 0.16 Stabilizing 1.0 D 0.693 prob.neutral N 0.492150445 None None N
R/Q 0.2828 likely_benign 0.4145 ambiguous -0.065 Destabilizing 1.0 D 0.717 prob.delet. None None None None N
R/S 0.9065 likely_pathogenic 0.9526 pathogenic -0.439 Destabilizing 1.0 D 0.692 prob.neutral N 0.419782091 None None N
R/T 0.8196 likely_pathogenic 0.914 pathogenic -0.201 Destabilizing 1.0 D 0.681 prob.neutral None None None None N
R/V 0.9103 likely_pathogenic 0.9564 pathogenic 0.16 Stabilizing 1.0 D 0.705 prob.neutral None None None None N
R/W 0.6465 likely_pathogenic 0.7803 pathogenic -0.216 Destabilizing 1.0 D 0.717 prob.delet. None None None None N
R/Y 0.9246 likely_pathogenic 0.9606 pathogenic 0.145 Stabilizing 1.0 D 0.705 prob.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.