Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC33573100942;100943;100944 chr2:178536030;178536029;178536028chr2:179400757;179400756;179400755
N2AB3193296019;96020;96021 chr2:178536030;178536029;178536028chr2:179400757;179400756;179400755
N2A3100593238;93239;93240 chr2:178536030;178536029;178536028chr2:179400757;179400756;179400755
N2B2450873747;73748;73749 chr2:178536030;178536029;178536028chr2:179400757;179400756;179400755
Novex-12463374122;74123;74124 chr2:178536030;178536029;178536028chr2:179400757;179400756;179400755
Novex-22470074323;74324;74325 chr2:178536030;178536029;178536028chr2:179400757;179400756;179400755
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACC
  • RefSeq wild type template codon: TGG
  • Domain: Ig-158
  • Domain position: 78
  • Structural Position: 159
  • Q(SASA): 0.2324
  • 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
T/I rs2154137156 None 1.0 D 0.765 0.527 0.70075097299 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.92827E-04 None 0 0 0 0 0
T/I rs2154137156 None 1.0 D 0.765 0.527 0.70075097299 gnomAD-4.0.0 1.90449E-06 None None None None N None 0 0 None 0 2.24669E-05 None 0 0 0 2.38578E-05 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
T/A 0.2355 likely_benign 0.2313 benign -0.903 Destabilizing 0.979 D 0.607 neutral N 0.517052729 None None N
T/C 0.8019 likely_pathogenic 0.8134 pathogenic -0.631 Destabilizing 1.0 D 0.704 prob.neutral None None None None N
T/D 0.9212 likely_pathogenic 0.8897 pathogenic -0.66 Destabilizing 0.999 D 0.767 deleterious None None None None N
T/E 0.8391 likely_pathogenic 0.7955 pathogenic -0.633 Destabilizing 1.0 D 0.765 deleterious None None None None N
T/F 0.7106 likely_pathogenic 0.7169 pathogenic -0.933 Destabilizing 1.0 D 0.787 deleterious None None None None N
T/G 0.6549 likely_pathogenic 0.6437 pathogenic -1.187 Destabilizing 1.0 D 0.72 prob.delet. None None None None N
T/H 0.7702 likely_pathogenic 0.7509 pathogenic -1.485 Destabilizing 1.0 D 0.743 deleterious None None None None N
T/I 0.472 ambiguous 0.503 ambiguous -0.228 Destabilizing 1.0 D 0.765 deleterious D 0.527328437 None None N
T/K 0.7561 likely_pathogenic 0.7467 pathogenic -0.802 Destabilizing 1.0 D 0.767 deleterious None None None None N
T/L 0.3685 ambiguous 0.3915 ambiguous -0.228 Destabilizing 0.999 D 0.697 prob.neutral None None None None N
T/M 0.2491 likely_benign 0.2742 benign 0.124 Stabilizing 1.0 D 0.717 prob.delet. None None None None N
T/N 0.4773 ambiguous 0.4655 ambiguous -0.882 Destabilizing 0.998 D 0.775 deleterious D 0.536331923 None None N
T/P 0.9202 likely_pathogenic 0.9234 pathogenic -0.42 Destabilizing 0.998 D 0.753 deleterious D 0.529034999 None None N
T/Q 0.6467 likely_pathogenic 0.619 pathogenic -1.047 Destabilizing 0.999 D 0.78 deleterious None None None None N
T/R 0.6955 likely_pathogenic 0.6927 pathogenic -0.583 Destabilizing 1.0 D 0.769 deleterious None None None None N
T/S 0.2696 likely_benign 0.2408 benign -1.14 Destabilizing 0.979 D 0.611 neutral N 0.473435237 None None N
T/V 0.2858 likely_benign 0.3304 benign -0.42 Destabilizing 0.998 D 0.674 neutral None None None None N
T/W 0.9477 likely_pathogenic 0.947 pathogenic -0.879 Destabilizing 1.0 D 0.748 deleterious None None None None N
T/Y 0.8078 likely_pathogenic 0.8052 pathogenic -0.627 Destabilizing 1.0 D 0.777 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.