Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC343010513;10514;10515 chr2:178758999;178758998;178758997chr2:179623726;179623725;179623724
N2AB343010513;10514;10515 chr2:178758999;178758998;178758997chr2:179623726;179623725;179623724
N2A343010513;10514;10515 chr2:178758999;178758998;178758997chr2:179623726;179623725;179623724
N2B338410375;10376;10377 chr2:178758999;178758998;178758997chr2:179623726;179623725;179623724
Novex-1338410375;10376;10377 chr2:178758999;178758998;178758997chr2:179623726;179623725;179623724
Novex-2338410375;10376;10377 chr2:178758999;178758998;178758997chr2:179623726;179623725;179623724
Novex-3343010513;10514;10515 chr2:178758999;178758998;178758997chr2:179623726;179623725;179623724

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAC
  • RefSeq wild type template codon: TTG
  • Domain: Ig-24
  • Domain position: 86
  • Structural Position: 173
  • Q(SASA): 0.4781
  • 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
N/H rs376029089 -0.97 0.295 N 0.469 0.11 None gnomAD-2.1.1 1.99E-05 None None None None N None 0 0 None 0 0 None 0 None 0 4.4E-05 0
N/H rs376029089 -0.97 0.295 N 0.469 0.11 None gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
N/H rs376029089 -0.97 0.295 N 0.469 0.11 None gnomAD-4.0.0 4.0894E-05 None None None None N None 0 1.6665E-05 None 0 0 None 0 0 5.50875E-05 0 0
N/S None None None N 0.129 0.107 0.0138822411134 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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
N/A 0.1155 likely_benign 0.1226 benign -1.211 Destabilizing 0.007 N 0.353 neutral None None None None N
N/C 0.1842 likely_benign 0.1602 benign -0.201 Destabilizing 0.356 N 0.556 neutral None None None None N
N/D 0.1267 likely_benign 0.1346 benign -0.342 Destabilizing 0.024 N 0.331 neutral N 0.495564818 None None N
N/E 0.2381 likely_benign 0.2496 benign -0.309 Destabilizing 0.016 N 0.327 neutral None None None None N
N/F 0.2606 likely_benign 0.2685 benign -1.358 Destabilizing 0.072 N 0.612 neutral None None None None N
N/G 0.188 likely_benign 0.2017 benign -1.448 Destabilizing 0.016 N 0.309 neutral None None None None N
N/H 0.0688 likely_benign 0.0639 benign -1.257 Destabilizing 0.295 N 0.469 neutral N 0.503106833 None None N
N/I 0.1116 likely_benign 0.1102 benign -0.634 Destabilizing None N 0.357 neutral N 0.499029604 None None N
N/K 0.1293 likely_benign 0.1334 benign -0.119 Destabilizing 0.012 N 0.325 neutral N 0.447516858 None None N
N/L 0.1232 likely_benign 0.1314 benign -0.634 Destabilizing None N 0.349 neutral None None None None N
N/M 0.1922 likely_benign 0.1913 benign 0.036 Stabilizing 0.214 N 0.56 neutral None None None None N
N/P 0.469 ambiguous 0.5592 ambiguous -0.802 Destabilizing 0.136 N 0.601 neutral None None None None N
N/Q 0.1813 likely_benign 0.1847 benign -0.843 Destabilizing 0.072 N 0.445 neutral None None None None N
N/R 0.1324 likely_benign 0.1265 benign 0.031 Stabilizing 0.072 N 0.359 neutral None None None None N
N/S 0.0592 likely_benign 0.0613 benign -0.741 Destabilizing None N 0.129 neutral N 0.446074531 None None N
N/T 0.0668 likely_benign 0.0675 benign -0.529 Destabilizing None N 0.107 neutral N 0.406252714 None None N
N/V 0.1161 likely_benign 0.1107 benign -0.802 Destabilizing 0.007 N 0.399 neutral None None None None N
N/W 0.5211 ambiguous 0.5553 ambiguous -1.06 Destabilizing 0.864 D 0.562 neutral None None None None N
N/Y 0.1069 likely_benign 0.1078 benign -0.881 Destabilizing 0.295 N 0.593 neutral N 0.495058765 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.