Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1437643351;43352;43353 chr2:178633005;178633004;178633003chr2:179497732;179497731;179497730
N2AB1273538428;38429;38430 chr2:178633005;178633004;178633003chr2:179497732;179497731;179497730
N2A1180835647;35648;35649 chr2:178633005;178633004;178633003chr2:179497732;179497731;179497730
N2B531116156;16157;16158 chr2:178633005;178633004;178633003chr2:179497732;179497731;179497730
Novex-1543616531;16532;16533 chr2:178633005;178633004;178633003chr2:179497732;179497731;179497730
Novex-2550316732;16733;16734 chr2:178633005;178633004;178633003chr2:179497732;179497731;179497730
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATC
  • RefSeq wild type template codon: TAG
  • Domain: Ig-94
  • Domain position: 58
  • Structural Position: 139
  • Q(SASA): 0.0964
  • 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 rs1559959762 None 0.087 N 0.507 0.057 0.28492961333 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
I/M rs1559959762 None 0.087 N 0.507 0.057 0.28492961333 gnomAD-4.0.0 3.18555E-06 None None None None N None 0 4.57477E-05 None 0 0 None 0 0 0 0 0
I/V rs181000791 -1.892 None N 0.2 0.05 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
I/V rs181000791 -1.892 None N 0.2 0.05 None gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
I/V rs181000791 -1.892 None N 0.2 0.05 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
I/V rs181000791 -1.892 None N 0.2 0.05 None gnomAD-4.0.0 3.7194E-06 None None None None N None 1.33316E-05 0 None 0 0 None 0 0 4.23941E-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
I/A 0.5433 ambiguous 0.5178 ambiguous -2.789 Highly Destabilizing 0.003 N 0.385 neutral None None None None N
I/C 0.7336 likely_pathogenic 0.7462 pathogenic -1.89 Destabilizing 0.204 N 0.553 neutral None None None None N
I/D 0.7927 likely_pathogenic 0.7763 pathogenic -3.328 Highly Destabilizing 0.204 N 0.642 neutral None None None None N
I/E 0.6411 likely_pathogenic 0.6263 pathogenic -3.16 Highly Destabilizing 0.068 N 0.603 neutral None None None None N
I/F 0.2042 likely_benign 0.2141 benign -1.699 Destabilizing 0.087 N 0.514 neutral D 0.544593889 None None N
I/G 0.8252 likely_pathogenic 0.8193 pathogenic -3.249 Highly Destabilizing 0.068 N 0.58 neutral None None None None N
I/H 0.4553 ambiguous 0.4592 ambiguous -2.719 Highly Destabilizing 0.747 D 0.639 neutral None None None None N
I/K 0.3555 ambiguous 0.349 ambiguous -2.262 Highly Destabilizing 0.035 N 0.603 neutral None None None None N
I/L 0.1589 likely_benign 0.1569 benign -1.453 Destabilizing 0.001 N 0.361 neutral N 0.426695839 None None N
I/M 0.1614 likely_benign 0.1524 benign -1.211 Destabilizing 0.087 N 0.507 neutral N 0.466195377 None None N
I/N 0.3482 ambiguous 0.3357 benign -2.467 Highly Destabilizing 0.162 N 0.627 neutral N 0.506123541 None None N
I/P 0.975 likely_pathogenic 0.9782 pathogenic -1.884 Destabilizing 0.204 N 0.63 neutral None None None None N
I/Q 0.4726 ambiguous 0.4622 ambiguous -2.408 Highly Destabilizing 0.439 N 0.625 neutral None None None None N
I/R 0.2681 likely_benign 0.2691 benign -1.788 Destabilizing 0.204 N 0.633 neutral None None None None N
I/S 0.3956 ambiguous 0.3869 ambiguous -3.035 Highly Destabilizing 0.013 N 0.544 neutral D 0.54295631 None None N
I/T 0.2638 likely_benign 0.24 benign -2.76 Highly Destabilizing None N 0.345 neutral N 0.419702494 None None N
I/V 0.0763 likely_benign 0.0756 benign -1.884 Destabilizing None N 0.2 neutral N 0.431121596 None None N
I/W 0.8012 likely_pathogenic 0.8174 pathogenic -2.173 Highly Destabilizing 0.747 D 0.671 prob.neutral None None None None N
I/Y 0.461 ambiguous 0.4693 ambiguous -1.983 Destabilizing 0.204 N 0.574 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.