Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC15594900;4901;4902 chr2:178777288;178777287;178777286chr2:179642015;179642014;179642013
N2AB15594900;4901;4902 chr2:178777288;178777287;178777286chr2:179642015;179642014;179642013
N2A15594900;4901;4902 chr2:178777288;178777287;178777286chr2:179642015;179642014;179642013
N2B15134762;4763;4764 chr2:178777288;178777287;178777286chr2:179642015;179642014;179642013
Novex-115134762;4763;4764 chr2:178777288;178777287;178777286chr2:179642015;179642014;179642013
Novex-215134762;4763;4764 chr2:178777288;178777287;178777286chr2:179642015;179642014;179642013
Novex-315594900;4901;4902 chr2:178777288;178777287;178777286chr2:179642015;179642014;179642013

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTA
  • RefSeq wild type template codon: CAT
  • Domain: Ig-7
  • Domain position: 4
  • Structural Position: 4
  • Q(SASA): 0.3659
  • 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
V/A rs1262171318 None 0.822 N 0.391 0.135 0.516604699598 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78469E-04
V/A rs1262171318 None 0.822 N 0.391 0.135 0.516604699598 gnomAD-4.0.0 3.09817E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54245E-06 0 3.20154E-05
V/G rs1262171318 -0.936 0.971 D 0.753 0.43 0.68695168648 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
V/G rs1262171318 -0.936 0.971 D 0.753 0.43 0.68695168648 gnomAD-4.0.0 6.84162E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15937E-05 0
V/I rs538451328 -0.145 0.014 N 0.188 0.049 0.259272394797 gnomAD-2.1.1 3.99E-06 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 0 0
V/I rs538451328 -0.145 0.014 N 0.188 0.049 0.259272394797 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
V/I rs538451328 -0.145 0.014 N 0.188 0.049 0.259272394797 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
V/I rs538451328 -0.145 0.014 N 0.188 0.049 0.259272394797 gnomAD-4.0.0 6.56625E-06 None None None None N None 2.40616E-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
V/A 0.1331 likely_benign 0.1297 benign -0.996 Destabilizing 0.822 D 0.391 neutral N 0.478732925 None None N
V/C 0.7614 likely_pathogenic 0.7546 pathogenic -0.644 Destabilizing 0.998 D 0.674 neutral None None None None N
V/D 0.41 ambiguous 0.4169 ambiguous -0.731 Destabilizing 0.993 D 0.764 deleterious None None None None N
V/E 0.2683 likely_benign 0.273 benign -0.804 Destabilizing 0.99 D 0.717 prob.delet. N 0.455833205 None None N
V/F 0.1842 likely_benign 0.1885 benign -0.913 Destabilizing 0.956 D 0.681 prob.neutral None None None None N
V/G 0.2432 likely_benign 0.2385 benign -1.213 Destabilizing 0.971 D 0.753 deleterious D 0.578256709 None None N
V/H 0.5516 ambiguous 0.5414 ambiguous -0.65 Destabilizing 0.998 D 0.752 deleterious None None None None N
V/I 0.0693 likely_benign 0.0696 benign -0.539 Destabilizing 0.014 N 0.188 neutral N 0.443788201 None None N
V/K 0.3729 ambiguous 0.3608 ambiguous -0.84 Destabilizing 0.978 D 0.719 prob.delet. None None None None N
V/L 0.1405 likely_benign 0.1382 benign -0.539 Destabilizing 0.247 N 0.327 neutral N 0.436181867 None None N
V/M 0.1173 likely_benign 0.1162 benign -0.399 Destabilizing 0.956 D 0.657 neutral None None None None N
V/N 0.3072 likely_benign 0.2945 benign -0.543 Destabilizing 0.993 D 0.765 deleterious None None None None N
V/P 0.73 likely_pathogenic 0.7094 pathogenic -0.655 Destabilizing 0.993 D 0.737 prob.delet. None None None None N
V/Q 0.3018 likely_benign 0.292 benign -0.794 Destabilizing 0.993 D 0.737 prob.delet. None None None None N
V/R 0.3046 likely_benign 0.296 benign -0.221 Destabilizing 0.993 D 0.765 deleterious None None None None N
V/S 0.1855 likely_benign 0.1801 benign -0.974 Destabilizing 0.978 D 0.721 prob.delet. None None None None N
V/T 0.1066 likely_benign 0.1029 benign -0.949 Destabilizing 0.86 D 0.573 neutral None None None None N
V/W 0.7609 likely_pathogenic 0.7697 pathogenic -1.008 Destabilizing 0.998 D 0.775 deleterious None None None None N
V/Y 0.5875 likely_pathogenic 0.5978 pathogenic -0.742 Destabilizing 0.978 D 0.699 prob.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.