Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC25807963;7964;7965 chr2:178773226;178773225;178773224chr2:179637953;179637952;179637951
N2AB25807963;7964;7965 chr2:178773226;178773225;178773224chr2:179637953;179637952;179637951
N2A25807963;7964;7965 chr2:178773226;178773225;178773224chr2:179637953;179637952;179637951
N2B25347825;7826;7827 chr2:178773226;178773225;178773224chr2:179637953;179637952;179637951
Novex-125347825;7826;7827 chr2:178773226;178773225;178773224chr2:179637953;179637952;179637951
Novex-225347825;7826;7827 chr2:178773226;178773225;178773224chr2:179637953;179637952;179637951
Novex-325807963;7964;7965 chr2:178773226;178773225;178773224chr2:179637953;179637952;179637951

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-15
  • Domain position: 48
  • Structural Position: 123
  • Q(SASA): 0.2457
  • 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/M rs146590898 -0.672 0.045 N 0.183 0.235 None gnomAD-2.1.1 1.13649E-03 None None None None N None 1.2209E-02 3.11474E-04 None 0 0 None 0 None 0 3.11E-05 5.58191E-04
I/M rs146590898 -0.672 0.045 N 0.183 0.235 None gnomAD-3.1.2 3.47131E-03 None None None None N None 1.24137E-02 4.58655E-04 0 0 0 None 0 0 7.35E-05 0 9.56023E-04
I/M rs146590898 -0.672 0.045 N 0.183 0.235 None 1000 genomes 3.59425E-03 None None None None N None 1.29E-02 1.4E-03 None None 0 0 None None None 0 None
I/M rs146590898 -0.672 0.045 N 0.183 0.235 None gnomAD-4.0.0 6.33899E-04 None None None None N None 1.2613E-02 4.66962E-04 None 0 0 None 0 1.65071E-04 8.47504E-06 0 6.08097E-04
I/T rs1554000030 None 0.004 D 0.254 0.357 0.623624748459 gnomAD-4.0.0 3.18219E-06 None None None None N None 0 2.28854E-05 None 0 0 None 0 0 0 1.4332E-05 0
I/V rs753963679 None 0.002 N 0.111 0.15 0.464612977235 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/V rs753963679 None 0.002 N 0.111 0.15 0.464612977235 gnomAD-4.0.0 8.67537E-06 None None None None N None 0 0 None 0 0 None 0 0 1.01701E-05 0 3.20164E-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 0.3532 ambiguous 0.3373 benign -1.984 Destabilizing 0.25 N 0.362 neutral None None None None N
I/C 0.8294 likely_pathogenic 0.7994 pathogenic -1.246 Destabilizing 0.992 D 0.597 neutral None None None None N
I/D 0.9277 likely_pathogenic 0.8865 pathogenic -1.404 Destabilizing 0.85 D 0.653 neutral None None None None N
I/E 0.7423 likely_pathogenic 0.6695 pathogenic -1.302 Destabilizing 0.617 D 0.645 neutral None None None None N
I/F 0.243 likely_benign 0.223 benign -1.215 Destabilizing 0.81 D 0.579 neutral N 0.516443155 None None N
I/G 0.8352 likely_pathogenic 0.7874 pathogenic -2.414 Highly Destabilizing 0.617 D 0.606 neutral None None None None N
I/H 0.7747 likely_pathogenic 0.7067 pathogenic -1.59 Destabilizing 0.992 D 0.623 neutral None None None None N
I/K 0.5533 ambiguous 0.4606 ambiguous -1.368 Destabilizing 0.617 D 0.623 neutral None None None None N
I/L 0.1683 likely_benign 0.1547 benign -0.818 Destabilizing 0.099 N 0.263 neutral N 0.508308856 None None N
I/M 0.0769 likely_benign 0.0847 benign -0.696 Destabilizing 0.045 N 0.183 neutral N 0.473774582 None None N
I/N 0.5857 likely_pathogenic 0.4942 ambiguous -1.352 Destabilizing 0.81 D 0.654 neutral D 0.654535348 None None N
I/P 0.8932 likely_pathogenic 0.8658 pathogenic -1.179 Destabilizing 0.92 D 0.649 neutral None None None None N
I/Q 0.5925 likely_pathogenic 0.5218 ambiguous -1.387 Destabilizing 0.92 D 0.644 neutral None None None None N
I/R 0.4583 ambiguous 0.3648 ambiguous -0.905 Destabilizing 0.85 D 0.652 neutral None None None None N
I/S 0.4582 ambiguous 0.3979 ambiguous -2.071 Highly Destabilizing 0.379 N 0.566 neutral D 0.613012448 None None N
I/T 0.1867 likely_benign 0.1746 benign -1.829 Destabilizing 0.004 N 0.254 neutral D 0.587997354 None None N
I/V 0.107 likely_benign 0.0994 benign -1.179 Destabilizing 0.002 N 0.111 neutral N 0.502842919 None None N
I/W 0.8158 likely_pathogenic 0.7924 pathogenic -1.371 Destabilizing 0.992 D 0.643 neutral None None None None N
I/Y 0.6279 likely_pathogenic 0.5826 pathogenic -1.12 Destabilizing 0.92 D 0.621 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.