Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2406072403;72404;72405 chr2:178573954;178573953;178573952chr2:179438681;179438680;179438679
N2AB2241967480;67481;67482 chr2:178573954;178573953;178573952chr2:179438681;179438680;179438679
N2A2149264699;64700;64701 chr2:178573954;178573953;178573952chr2:179438681;179438680;179438679
N2B1499545208;45209;45210 chr2:178573954;178573953;178573952chr2:179438681;179438680;179438679
Novex-11512045583;45584;45585 chr2:178573954;178573953;178573952chr2:179438681;179438680;179438679
Novex-21518745784;45785;45786 chr2:178573954;178573953;178573952chr2:179438681;179438680;179438679
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Ig-131
  • Domain position: 32
  • Structural Position: 45
  • Q(SASA): 0.6094
  • Predicted PPI site: I

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/A rs1709156357 None 0.835 N 0.399 0.182 0.244539031024 gnomAD-4.0.0 1.08029E-05 None None None None I None 0 0 None 0 0 None 0 0 1.18125E-05 0 0
T/I None None 0.994 D 0.651 0.396 0.547935346631 gnomAD-4.0.0 1.59224E-06 None None None None I None 0 0 None 0 0 None 0 2.41429E-04 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
T/A 0.0695 likely_benign 0.0706 benign -0.425 Destabilizing 0.835 D 0.399 neutral N 0.484896316 None None I
T/C 0.3981 ambiguous 0.3983 ambiguous -0.197 Destabilizing 1.0 D 0.645 neutral None None None None I
T/D 0.3399 likely_benign 0.3577 ambiguous -0.233 Destabilizing 0.97 D 0.591 neutral None None None None I
T/E 0.2207 likely_benign 0.2291 benign -0.299 Destabilizing 0.97 D 0.591 neutral None None None None I
T/F 0.2027 likely_benign 0.2014 benign -0.776 Destabilizing 0.999 D 0.731 prob.delet. None None None None I
T/G 0.2194 likely_benign 0.2157 benign -0.593 Destabilizing 0.97 D 0.552 neutral None None None None I
T/H 0.2 likely_benign 0.1977 benign -0.881 Destabilizing 1.0 D 0.712 prob.delet. None None None None I
T/I 0.1117 likely_benign 0.1173 benign -0.092 Destabilizing 0.994 D 0.651 neutral D 0.527499009 None None I
T/K 0.125 likely_benign 0.1234 benign -0.574 Destabilizing 0.961 D 0.591 neutral N 0.483841445 None None I
T/L 0.0803 likely_benign 0.0821 benign -0.092 Destabilizing 0.985 D 0.549 neutral None None None None I
T/M 0.0878 likely_benign 0.0936 benign 0.154 Stabilizing 1.0 D 0.655 neutral None None None None I
T/N 0.1158 likely_benign 0.121 benign -0.305 Destabilizing 0.97 D 0.487 neutral None None None None I
T/P 0.4251 ambiguous 0.4151 ambiguous -0.174 Destabilizing 0.994 D 0.654 neutral N 0.519169496 None None I
T/Q 0.1673 likely_benign 0.1685 benign -0.56 Destabilizing 0.996 D 0.676 prob.neutral None None None None I
T/R 0.1208 likely_benign 0.1201 benign -0.223 Destabilizing 0.994 D 0.671 neutral D 0.525997499 None None I
T/S 0.0941 likely_benign 0.0961 benign -0.476 Destabilizing 0.287 N 0.178 neutral N 0.466735765 None None I
T/V 0.0924 likely_benign 0.0944 benign -0.174 Destabilizing 0.985 D 0.459 neutral None None None None I
T/W 0.5836 likely_pathogenic 0.5746 pathogenic -0.775 Destabilizing 1.0 D 0.726 prob.delet. None None None None I
T/Y 0.2507 likely_benign 0.2313 benign -0.525 Destabilizing 0.999 D 0.735 prob.delet. None None None None I

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.