Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC35429106510;106511;106512 chr2:178530330;178530329;178530328chr2:179395057;179395056;179395055
N2AB33788101587;101588;101589 chr2:178530330;178530329;178530328chr2:179395057;179395056;179395055
N2A3286198806;98807;98808 chr2:178530330;178530329;178530328chr2:179395057;179395056;179395055
N2B2636479315;79316;79317 chr2:178530330;178530329;178530328chr2:179395057;179395056;179395055
Novex-12648979690;79691;79692 chr2:178530330;178530329;178530328chr2:179395057;179395056;179395055
Novex-22655679891;79892;79893 chr2:178530330;178530329;178530328chr2:179395057;179395056;179395055
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-166
  • Domain position: 10
  • Structural Position: 13
  • Q(SASA): 0.2603
  • 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/A None None 0.037 N 0.323 0.054 0.21279746466 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
T/I rs1241466221 None 0.002 N 0.219 0.137 0.320256813643 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
T/I rs1241466221 None 0.002 N 0.219 0.137 0.320256813643 gnomAD-4.0.0 6.56961E-06 None None None None N None 2.41243E-05 0 None 0 0 None 0 0 0 0 0
T/K rs1241466221 -0.474 0.001 N 0.297 0.251 0.352476196916 gnomAD-2.1.1 2.01E-05 None None None None N None 0 1.44852E-04 None 0 0 None 0 None 0 0 0
T/K rs1241466221 -0.474 0.001 N 0.297 0.251 0.352476196916 gnomAD-4.0.0 7.95484E-06 None None None None N None 0 1.14317E-04 None 0 0 None 0 0 0 0 0
T/S rs878963350 None 0.157 N 0.373 0.07 None gnomAD-3.1.2 1.31E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 0 0 0
T/S rs878963350 None 0.157 N 0.373 0.07 None gnomAD-4.0.0 1.3137E-05 None None None None N None 4.82323E-05 0 None 0 0 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
T/A 0.0944 likely_benign 0.0963 benign -0.802 Destabilizing 0.037 N 0.323 neutral N 0.470834862 None None N
T/C 0.5945 likely_pathogenic 0.5967 pathogenic -0.457 Destabilizing 0.953 D 0.352 neutral None None None None N
T/D 0.4552 ambiguous 0.4665 ambiguous -0.097 Destabilizing 0.198 N 0.399 neutral None None None None N
T/E 0.3261 likely_benign 0.3325 benign -0.089 Destabilizing 0.11 N 0.381 neutral None None None None N
T/F 0.2656 likely_benign 0.2684 benign -0.912 Destabilizing 0.464 N 0.419 neutral None None None None N
T/G 0.3376 likely_benign 0.3492 ambiguous -1.066 Destabilizing 0.198 N 0.418 neutral None None None None N
T/H 0.337 likely_benign 0.3432 ambiguous -1.365 Destabilizing 0.953 D 0.4 neutral None None None None N
T/I 0.135 likely_benign 0.1411 benign -0.189 Destabilizing 0.002 N 0.219 neutral N 0.433777984 None None N
T/K 0.2013 likely_benign 0.2026 benign -0.671 Destabilizing 0.001 N 0.297 neutral N 0.468989423 None None N
T/L 0.1255 likely_benign 0.1289 benign -0.189 Destabilizing 0.008 N 0.31 neutral None None None None N
T/M 0.1022 likely_benign 0.1046 benign 0.07 Stabilizing 0.008 N 0.264 neutral None None None None N
T/N 0.1704 likely_benign 0.1708 benign -0.632 Destabilizing 0.464 N 0.38 neutral None None None None N
T/P 0.5111 ambiguous 0.539 ambiguous -0.36 Destabilizing 0.57 D 0.387 neutral N 0.50350755 None None N
T/Q 0.263 likely_benign 0.2686 benign -0.747 Destabilizing 0.464 N 0.369 neutral None None None None N
T/R 0.1646 likely_benign 0.1672 benign -0.499 Destabilizing 0.085 N 0.399 neutral N 0.457041633 None None N
T/S 0.1484 likely_benign 0.1533 benign -0.916 Destabilizing 0.157 N 0.373 neutral N 0.50033105 None None N
T/V 0.1334 likely_benign 0.1353 benign -0.36 Destabilizing 0.001 N 0.11 neutral None None None None N
T/W 0.6916 likely_pathogenic 0.7137 pathogenic -0.863 Destabilizing 0.953 D 0.441 neutral None None None None N
T/Y 0.3384 likely_benign 0.3452 ambiguous -0.617 Destabilizing 0.637 D 0.428 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.