Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2932788204;88205;88206 chr2:178557283;178557282;178557281chr2:179422010;179422009;179422008
N2AB2768683281;83282;83283 chr2:178557283;178557282;178557281chr2:179422010;179422009;179422008
N2A2675980500;80501;80502 chr2:178557283;178557282;178557281chr2:179422010;179422009;179422008
N2B2026261009;61010;61011 chr2:178557283;178557282;178557281chr2:179422010;179422009;179422008
Novex-12038761384;61385;61386 chr2:178557283;178557282;178557281chr2:179422010;179422009;179422008
Novex-22045461585;61586;61587 chr2:178557283;178557282;178557281chr2:179422010;179422009;179422008
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: Fn3-101
  • Domain position: 91
  • Structural Position: 124
  • Q(SASA): 0.2393
  • 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/P rs369714676 0.23 0.994 N 0.673 0.476 None gnomAD-4.0.0 1.59115E-06 None None None None N None 0 0 None 0 2.77685E-05 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
S/A 0.2686 likely_benign 0.2967 benign -0.636 Destabilizing 0.595 D 0.473 neutral N 0.503748498 None None N
S/C 0.1897 likely_benign 0.2011 benign -0.555 Destabilizing 0.049 N 0.509 neutral N 0.489811753 None None N
S/D 0.9874 likely_pathogenic 0.9899 pathogenic -1.022 Destabilizing 0.995 D 0.635 neutral None None None None N
S/E 0.9931 likely_pathogenic 0.9952 pathogenic -0.924 Destabilizing 0.995 D 0.632 neutral None None None None N
S/F 0.9788 likely_pathogenic 0.9859 pathogenic -0.413 Destabilizing 0.994 D 0.683 prob.neutral D 0.534387601 None None N
S/G 0.3507 ambiguous 0.3876 ambiguous -0.99 Destabilizing 0.95 D 0.591 neutral None None None None N
S/H 0.9852 likely_pathogenic 0.9872 pathogenic -1.492 Destabilizing 0.999 D 0.652 prob.neutral None None None None N
S/I 0.9214 likely_pathogenic 0.9499 pathogenic 0.227 Stabilizing 0.971 D 0.669 prob.neutral None None None None N
S/K 0.9988 likely_pathogenic 0.9991 pathogenic -0.837 Destabilizing 0.995 D 0.62 neutral None None None None N
S/L 0.7224 likely_pathogenic 0.7852 pathogenic 0.227 Stabilizing 0.825 D 0.697 prob.delet. None None None None N
S/M 0.8099 likely_pathogenic 0.8588 pathogenic 0.277 Stabilizing 0.999 D 0.649 prob.neutral None None None None N
S/N 0.9297 likely_pathogenic 0.9401 pathogenic -1.099 Destabilizing 0.995 D 0.643 neutral None None None None N
S/P 0.9898 likely_pathogenic 0.9916 pathogenic -0.024 Destabilizing 0.994 D 0.673 prob.neutral N 0.517043815 None None N
S/Q 0.9881 likely_pathogenic 0.9904 pathogenic -1.02 Destabilizing 0.995 D 0.663 prob.neutral None None None None N
S/R 0.9972 likely_pathogenic 0.9977 pathogenic -0.986 Destabilizing 0.995 D 0.666 prob.neutral None None None None N
S/T 0.1836 likely_benign 0.2076 benign -0.883 Destabilizing 0.877 D 0.623 neutral N 0.467197594 None None N
S/V 0.7705 likely_pathogenic 0.8382 pathogenic -0.024 Destabilizing 0.971 D 0.684 prob.delet. None None None None N
S/W 0.9916 likely_pathogenic 0.9938 pathogenic -0.585 Destabilizing 0.999 D 0.691 prob.delet. None None None None N
S/Y 0.9846 likely_pathogenic 0.989 pathogenic -0.246 Destabilizing 0.994 D 0.677 prob.neutral D 0.522866712 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.