Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2178365572;65573;65574 chr2:178583835;178583834;178583833chr2:179448562;179448561;179448560
N2AB2014260649;60650;60651 chr2:178583835;178583834;178583833chr2:179448562;179448561;179448560
N2A1921557868;57869;57870 chr2:178583835;178583834;178583833chr2:179448562;179448561;179448560
N2B1271838377;38378;38379 chr2:178583835;178583834;178583833chr2:179448562;179448561;179448560
Novex-11284338752;38753;38754 chr2:178583835;178583834;178583833chr2:179448562;179448561;179448560
Novex-21291038953;38954;38955 chr2:178583835;178583834;178583833chr2:179448562;179448561;179448560
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: H
  • RefSeq wild type transcript codon: CAT
  • RefSeq wild type template codon: GTA
  • Domain: Fn3-46
  • Domain position: 27
  • Structural Position: 29
  • Q(SASA): 0.5085
  • 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
H/R rs1223104137 None 0.97 N 0.433 0.413 0.276065633971 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
H/R rs1223104137 None 0.97 N 0.433 0.413 0.276065633971 gnomAD-4.0.0 3.86359E-06 None None None None N None 1.69371E-05 0 None 0 0 None 0 0 4.80811E-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
H/A 0.6542 likely_pathogenic 0.489 ambiguous 0.533 Stabilizing 0.86 D 0.511 neutral None None None None N
H/C 0.3523 ambiguous 0.2591 benign 0.886 Stabilizing 0.998 D 0.677 prob.neutral None None None None N
H/D 0.6304 likely_pathogenic 0.4854 ambiguous 0.108 Stabilizing 0.99 D 0.434 neutral N 0.435625345 None None N
H/E 0.7098 likely_pathogenic 0.5624 ambiguous 0.11 Stabilizing 0.926 D 0.459 neutral None None None None N
H/F 0.4192 ambiguous 0.3134 benign 0.962 Stabilizing 0.915 D 0.445 neutral None None None None N
H/G 0.6031 likely_pathogenic 0.4682 ambiguous 0.285 Stabilizing 0.926 D 0.509 neutral None None None None N
H/I 0.7021 likely_pathogenic 0.5404 ambiguous 1.143 Stabilizing 0.956 D 0.657 neutral None None None None N
H/K 0.5967 likely_pathogenic 0.4417 ambiguous 0.485 Stabilizing 0.978 D 0.429 neutral None None None None N
H/L 0.3184 likely_benign 0.233 benign 1.143 Stabilizing 0.698 D 0.557 neutral N 0.498658103 None None N
H/M 0.7037 likely_pathogenic 0.5805 pathogenic 0.913 Stabilizing 0.998 D 0.598 neutral None None None None N
H/N 0.1743 likely_benign 0.1209 benign 0.547 Stabilizing 0.904 D 0.517 neutral N 0.41740773 None None N
H/P 0.8388 likely_pathogenic 0.7745 pathogenic 0.966 Stabilizing 0.99 D 0.613 neutral N 0.482381929 None None N
H/Q 0.4334 ambiguous 0.2868 benign 0.596 Stabilizing 0.97 D 0.459 neutral N 0.478976264 None None N
H/R 0.2786 likely_benign 0.1862 benign -0.052 Destabilizing 0.97 D 0.433 neutral N 0.467393834 None None N
H/S 0.5173 ambiguous 0.3744 ambiguous 0.648 Stabilizing 0.926 D 0.475 neutral None None None None N
H/T 0.6076 likely_pathogenic 0.4415 ambiguous 0.744 Stabilizing 0.978 D 0.528 neutral None None None None N
H/V 0.5943 likely_pathogenic 0.4407 ambiguous 0.966 Stabilizing 0.956 D 0.567 neutral None None None None N
H/W 0.5164 ambiguous 0.4216 ambiguous 0.857 Stabilizing 0.994 D 0.605 neutral None None None None N
H/Y 0.1248 likely_benign 0.0937 benign 1.212 Stabilizing 0.014 N 0.223 neutral N 0.449520149 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.