Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC958028963;28964;28965 chr2:178709581;178709580;178709579chr2:179574308;179574307;179574306
N2AB926328012;28013;28014 chr2:178709581;178709580;178709579chr2:179574308;179574307;179574306
N2A833625231;25232;25233 chr2:178709581;178709580;178709579chr2:179574308;179574307;179574306
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: TCA
  • RefSeq wild type template codon: AGT
  • Domain: Ig-81
  • Domain position: 88
  • Structural Position: 173
  • Q(SASA): 0.2546
  • 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/L rs375212459 -0.13 0.379 None 0.587 0.428 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
S/L rs375212459 -0.13 0.379 None 0.587 0.428 None gnomAD-4.0.0 1.61279E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.05792E-05

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 0.1091 likely_benign 0.0973 benign -0.866 Destabilizing 0.004 N 0.196 neutral None None None None N
S/C 0.2989 likely_benign 0.2758 benign -0.554 Destabilizing 0.977 D 0.56 neutral None None None None N
S/D 0.8435 likely_pathogenic 0.7846 pathogenic 0.187 Stabilizing 0.005 N 0.306 neutral None None None None N
S/E 0.8541 likely_pathogenic 0.8137 pathogenic 0.176 Stabilizing 0.447 N 0.51 neutral None None None None N
S/F 0.4242 ambiguous 0.3786 ambiguous -1.135 Destabilizing 0.92 D 0.64 neutral None None None None N
S/G 0.2614 likely_benign 0.2173 benign -1.08 Destabilizing 0.25 N 0.49 neutral None None None None N
S/H 0.697 likely_pathogenic 0.6477 pathogenic -1.518 Destabilizing 0.992 D 0.556 neutral None None None None N
S/I 0.4679 ambiguous 0.4156 ambiguous -0.403 Destabilizing 0.85 D 0.629 neutral None None None None N
S/K 0.9423 likely_pathogenic 0.9162 pathogenic -0.42 Destabilizing 0.617 D 0.51 neutral None None None None N
S/L 0.1936 likely_benign 0.1649 benign -0.403 Destabilizing 0.379 N 0.587 neutral None None None None N
S/M 0.4029 ambiguous 0.3615 ambiguous -0.142 Destabilizing 0.992 D 0.556 neutral None None None None N
S/N 0.4025 ambiguous 0.3502 ambiguous -0.316 Destabilizing 0.617 D 0.52 neutral None None None None N
S/P 0.8372 likely_pathogenic 0.7694 pathogenic -0.527 Destabilizing 0.896 D 0.575 neutral None None None None N
S/Q 0.8001 likely_pathogenic 0.7637 pathogenic -0.515 Destabilizing 0.92 D 0.54 neutral None None None None N
S/R 0.8977 likely_pathogenic 0.8603 pathogenic -0.37 Destabilizing 0.85 D 0.59 neutral None None None None N
S/T 0.1457 likely_benign 0.134 benign -0.453 Destabilizing 0.007 N 0.17 neutral None None None None N
S/V 0.3738 ambiguous 0.3221 benign -0.527 Destabilizing 0.447 N 0.601 neutral None None None None N
S/W 0.6771 likely_pathogenic 0.6118 pathogenic -1.027 Destabilizing 0.992 D 0.664 neutral None None None None N
S/Y 0.388 ambiguous 0.3409 ambiguous -0.772 Destabilizing 0.972 D 0.636 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.