Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2804684361;84362;84363 chr2:178561996;178561995;178561994chr2:179426723;179426722;179426721
N2AB2640579438;79439;79440 chr2:178561996;178561995;178561994chr2:179426723;179426722;179426721
N2A2547876657;76658;76659 chr2:178561996;178561995;178561994chr2:179426723;179426722;179426721
N2B1898157166;57167;57168 chr2:178561996;178561995;178561994chr2:179426723;179426722;179426721
Novex-11910657541;57542;57543 chr2:178561996;178561995;178561994chr2:179426723;179426722;179426721
Novex-21917357742;57743;57744 chr2:178561996;178561995;178561994chr2:179426723;179426722;179426721
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Ig-142
  • Domain position: 84
  • Structural Position: 169
  • Q(SASA): 0.2033
  • 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
V/F None None 0.655 N 0.615 0.186 0.683689280437 gnomAD-4.0.0 5.47506E-06 None None None None I None 0 0 None 0 0 None 0 0 7.19655E-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
V/A 0.1371 likely_benign 0.1434 benign -1.7 Destabilizing None N 0.16 neutral N 0.400684131 None None I
V/C 0.6517 likely_pathogenic 0.6531 pathogenic -1.146 Destabilizing 0.836 D 0.597 neutral None None None None I
V/D 0.4021 ambiguous 0.4774 ambiguous -1.876 Destabilizing 0.213 N 0.644 neutral D 0.52824837 None None I
V/E 0.2588 likely_benign 0.2891 benign -1.779 Destabilizing 0.418 N 0.611 neutral None None None None I
V/F 0.1611 likely_benign 0.1669 benign -1.128 Destabilizing 0.655 D 0.615 neutral N 0.510009326 None None I
V/G 0.2741 likely_benign 0.3206 benign -2.102 Highly Destabilizing 0.101 N 0.585 neutral N 0.493578436 None None I
V/H 0.4929 ambiguous 0.5174 ambiguous -1.623 Destabilizing 0.836 D 0.645 neutral None None None None I
V/I 0.087 likely_benign 0.0813 benign -0.648 Destabilizing 0.002 N 0.187 neutral N 0.474819317 None None I
V/K 0.3059 likely_benign 0.3368 benign -1.542 Destabilizing 0.418 N 0.607 neutral None None None None I
V/L 0.1822 likely_benign 0.1675 benign -0.648 Destabilizing 0.017 N 0.359 neutral N 0.488921978 None None I
V/M 0.1267 likely_benign 0.127 benign -0.567 Destabilizing 0.716 D 0.586 neutral None None None None I
V/N 0.3086 likely_benign 0.344 ambiguous -1.514 Destabilizing 0.01 N 0.449 neutral None None None None I
V/P 0.9068 likely_pathogenic 0.9251 pathogenic -0.968 Destabilizing 0.836 D 0.624 neutral None None None None I
V/Q 0.2905 likely_benign 0.3156 benign -1.547 Destabilizing 0.836 D 0.629 neutral None None None None I
V/R 0.315 likely_benign 0.3593 ambiguous -1.139 Destabilizing 0.716 D 0.662 neutral None None None None I
V/S 0.1883 likely_benign 0.2111 benign -2.03 Highly Destabilizing 0.129 N 0.555 neutral None None None None I
V/T 0.1403 likely_benign 0.1443 benign -1.804 Destabilizing 0.228 N 0.457 neutral None None None None I
V/W 0.8198 likely_pathogenic 0.839 pathogenic -1.425 Destabilizing 0.983 D 0.663 neutral None None None None I
V/Y 0.4819 ambiguous 0.4955 ambiguous -1.098 Destabilizing 0.836 D 0.615 neutral 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.