Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC24907693;7694;7695 chr2:178773588;178773587;178773586chr2:179638315;179638314;179638313
N2AB24907693;7694;7695 chr2:178773588;178773587;178773586chr2:179638315;179638314;179638313
N2A24907693;7694;7695 chr2:178773588;178773587;178773586chr2:179638315;179638314;179638313
N2B24447555;7556;7557 chr2:178773588;178773587;178773586chr2:179638315;179638314;179638313
Novex-124447555;7556;7557 chr2:178773588;178773587;178773586chr2:179638315;179638314;179638313
Novex-224447555;7556;7557 chr2:178773588;178773587;178773586chr2:179638315;179638314;179638313
Novex-324907693;7694;7695 chr2:178773588;178773587;178773586chr2:179638315;179638314;179638313

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: CGT
  • RefSeq wild type template codon: GCA
  • Domain: Ig-14
  • Domain position: 46
  • Structural Position: 115
  • Q(SASA): 0.6703
  • 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
R/C rs200131545 -0.117 1.0 D 0.636 0.462 0.524271286562 gnomAD-2.1.1 7.97E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.82E-06 1.63239E-04
R/C rs200131545 -0.117 1.0 D 0.636 0.462 0.524271286562 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/C rs200131545 -0.117 1.0 D 0.636 0.462 0.524271286562 gnomAD-4.0.0 9.91432E-06 None None None None N None 0 0 None 0 0 None 0 0 1.27125E-05 0 1.60041E-05
R/H rs148920986 -1.239 1.0 N 0.554 0.383 None gnomAD-2.1.1 2.83E-05 None None None None N None 4.01E-05 2.83E-05 None 0 0 None 0 None 0 3.88E-05 1.38543E-04
R/H rs148920986 -1.239 1.0 N 0.554 0.383 None gnomAD-3.1.2 3.94E-05 None None None None N None 0 0 0 0 0 None 0 3.16456E-03 7.35E-05 0 0
R/H rs148920986 -1.239 1.0 N 0.554 0.383 None gnomAD-4.0.0 1.7348E-05 None None None None N None 1.33298E-05 1.66683E-05 None 0 2.22955E-05 None 0 0 1.94921E-05 0 3.1998E-05
R/L rs148920986 0.378 0.996 D 0.473 0.5 None gnomAD-2.1.1 7.97E-06 None None None None N None 1.23062E-04 0 None 0 0 None 0 None 0 0 0
R/L rs148920986 0.378 0.996 D 0.473 0.5 None gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
R/L rs148920986 0.378 0.996 D 0.473 0.5 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
R/L rs148920986 0.378 0.996 D 0.473 0.5 None gnomAD-4.0.0 4.95657E-06 None None None None N None 7.99787E-05 0 None 0 0 None 0 0 0 0 3.1998E-05
R/P None None 1.0 D 0.553 0.597 0.449283877778 gnomAD-4.0.0 2.05233E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69796E-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
R/A 0.8783 likely_pathogenic 0.8797 pathogenic -0.821 Destabilizing 0.996 D 0.512 neutral None None None None N
R/C 0.5237 ambiguous 0.5329 ambiguous -0.677 Destabilizing 1.0 D 0.636 neutral D 0.671612721 None None N
R/D 0.9084 likely_pathogenic 0.9104 pathogenic -0.265 Destabilizing 1.0 D 0.559 neutral None None None None N
R/E 0.7569 likely_pathogenic 0.7601 pathogenic -0.117 Destabilizing 0.999 D 0.52 neutral None None None None N
R/F 0.9217 likely_pathogenic 0.9224 pathogenic -0.472 Destabilizing 0.995 D 0.601 neutral None None None None N
R/G 0.7739 likely_pathogenic 0.7824 pathogenic -1.174 Destabilizing 0.999 D 0.486 neutral D 0.590104419 None None N
R/H 0.2485 likely_benign 0.2547 benign -1.454 Destabilizing 1.0 D 0.554 neutral N 0.501163785 None None N
R/I 0.7294 likely_pathogenic 0.7321 pathogenic 0.149 Stabilizing 0.999 D 0.612 neutral None None None None N
R/K 0.2482 likely_benign 0.2502 benign -0.924 Destabilizing 0.99 D 0.52 neutral None None None None N
R/L 0.7206 likely_pathogenic 0.7256 pathogenic 0.149 Stabilizing 0.996 D 0.473 neutral D 0.607858051 None None N
R/M 0.7501 likely_pathogenic 0.7556 pathogenic -0.145 Destabilizing 1.0 D 0.527 neutral None None None None N
R/N 0.8656 likely_pathogenic 0.8654 pathogenic -0.454 Destabilizing 1.0 D 0.559 neutral None None None None N
R/P 0.9786 likely_pathogenic 0.9796 pathogenic -0.154 Destabilizing 1.0 D 0.553 neutral D 0.670901859 None None N
R/Q 0.2696 likely_benign 0.2734 benign -0.507 Destabilizing 1.0 D 0.584 neutral None None None None N
R/S 0.885 likely_pathogenic 0.9162 pathogenic -1.149 Destabilizing 0.999 D 0.515 neutral D 0.591205665 None None N
R/T 0.6698 likely_pathogenic 0.6778 pathogenic -0.809 Destabilizing 0.999 D 0.526 neutral None None None None N
R/V 0.8394 likely_pathogenic 0.8407 pathogenic -0.154 Destabilizing 0.998 D 0.575 neutral None None None None N
R/W 0.5451 ambiguous 0.5603 ambiguous -0.132 Destabilizing 1.0 D 0.607 neutral None None None None N
R/Y 0.8029 likely_pathogenic 0.8051 pathogenic 0.154 Stabilizing 0.784 D 0.341 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.