Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC633119216;19217;19218 chr2:178729047;178729046;178729045chr2:179593774;179593773;179593772
N2AB601418265;18266;18267 chr2:178729047;178729046;178729045chr2:179593774;179593773;179593772
N2A508715484;15485;15486 chr2:178729047;178729046;178729045chr2:179593774;179593773;179593772
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-47
  • Domain position: 40
  • Structural Position: 56
  • Q(SASA): 0.5895
  • 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
I/L rs1198892837 -0.125 0.906 N 0.297 0.128 0.505885190548 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9E-06 0
I/L rs1198892837 -0.125 0.906 N 0.297 0.128 0.505885190548 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/L rs1198892837 -0.125 0.906 N 0.297 0.128 0.505885190548 gnomAD-4.0.0 3.72031E-06 None None None None N None 0 0 None 0 0 None 0 0 4.23934E-06 0 1.60251E-05

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
I/A 0.2336 likely_benign 0.1984 benign -0.729 Destabilizing 0.927 D 0.387 neutral None None None None N
I/C 0.5087 ambiguous 0.4906 ambiguous -0.569 Destabilizing 0.999 D 0.403 neutral None None None None N
I/D 0.3903 ambiguous 0.3427 ambiguous -0.168 Destabilizing 0.02 N 0.251 neutral None None None None N
I/E 0.2887 likely_benign 0.2558 benign -0.246 Destabilizing 0.759 D 0.431 neutral None None None None N
I/F 0.0993 likely_benign 0.0935 benign -0.65 Destabilizing 0.996 D 0.403 neutral N 0.489478218 None None N
I/G 0.4565 ambiguous 0.4014 ambiguous -0.926 Destabilizing 0.939 D 0.426 neutral None None None None N
I/H 0.2548 likely_benign 0.223 benign -0.234 Destabilizing 0.997 D 0.417 neutral None None None None N
I/K 0.1837 likely_benign 0.1541 benign -0.425 Destabilizing 0.884 D 0.427 neutral None None None None N
I/L 0.0823 likely_benign 0.0821 benign -0.323 Destabilizing 0.906 D 0.297 neutral N 0.489420623 None None N
I/M 0.0866 likely_benign 0.0831 benign -0.351 Destabilizing 0.996 D 0.423 neutral D 0.531421961 None None N
I/N 0.1461 likely_benign 0.1237 benign -0.173 Destabilizing 0.92 D 0.434 neutral N 0.519319456 None None N
I/P 0.2591 likely_benign 0.2316 benign -0.425 Destabilizing 0.997 D 0.43 neutral None None None None N
I/Q 0.2263 likely_benign 0.1927 benign -0.385 Destabilizing 0.982 D 0.427 neutral None None None None N
I/R 0.147 likely_benign 0.1243 benign 0.112 Stabilizing 0.046 N 0.348 neutral None None None None N
I/S 0.1956 likely_benign 0.1673 benign -0.659 Destabilizing 0.92 D 0.398 neutral N 0.504176645 None None N
I/T 0.1942 likely_benign 0.1578 benign -0.626 Destabilizing 0.959 D 0.387 neutral N 0.488439188 None None N
I/V 0.0793 likely_benign 0.0765 benign -0.425 Destabilizing 0.906 D 0.309 neutral N 0.450632949 None None N
I/W 0.5448 ambiguous 0.5127 ambiguous -0.682 Destabilizing 0.999 D 0.497 neutral None None None None N
I/Y 0.2749 likely_benign 0.2638 benign -0.432 Destabilizing 0.997 D 0.417 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.