Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC21206583;6584;6585 chr2:178775506;178775505;178775504chr2:179640233;179640232;179640231
N2AB21206583;6584;6585 chr2:178775506;178775505;178775504chr2:179640233;179640232;179640231
N2A21206583;6584;6585 chr2:178775506;178775505;178775504chr2:179640233;179640232;179640231
N2B20746445;6446;6447 chr2:178775506;178775505;178775504chr2:179640233;179640232;179640231
Novex-120746445;6446;6447 chr2:178775506;178775505;178775504chr2:179640233;179640232;179640231
Novex-220746445;6446;6447 chr2:178775506;178775505;178775504chr2:179640233;179640232;179640231
Novex-321206583;6584;6585 chr2:178775506;178775505;178775504chr2:179640233;179640232;179640231

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: CGG
  • RefSeq wild type template codon: GCC
  • Domain: Ig-10
  • Domain position: 43
  • Structural Position: 70
  • Q(SASA): 0.26
  • 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/L rs141142920 0.122 0.983 N 0.499 0.373 0.497613835824 gnomAD-2.1.1 3.02765E-04 None None None None N None 0 0 None 0 0 None 2.48236E-03 None 0 0 0
R/L rs141142920 0.122 0.983 N 0.499 0.373 0.497613835824 gnomAD-3.1.2 5.92E-05 None None None None N None 0 0 0 0 0 None 0 0 0 1.86258E-03 0
R/L rs141142920 0.122 0.983 N 0.499 0.373 0.497613835824 1000 genomes 9.98403E-04 None None None None N None 0 0 None None 0 0 None None None 5.1E-03 None
R/L rs141142920 0.122 0.983 N 0.499 0.373 0.497613835824 gnomAD-4.0.0 1.20821E-04 None None None None N None 0 0 None 0 0 None 0 0 0 2.00909E-03 1.91988E-04
R/P rs141142920 -0.094 0.998 N 0.467 0.404 0.384086055536 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.81E-06 0
R/P rs141142920 -0.094 0.998 N 0.467 0.404 0.384086055536 gnomAD-4.0.0 6.84126E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99308E-07 0 0
R/Q None -0.493 0.985 N 0.476 0.272 None gnomAD-2.1.1 1.38103E-04 None None None None N None 8.01E-05 1.97919E-04 None 0 5.03E-05 None 3.27E-05 None 3.98E-05 2.01657E-04 1.3885E-04
R/Q None -0.493 0.985 N 0.476 0.272 None gnomAD-3.1.2 3.28697E-04 None None None None N None 2.41E-05 2.09644E-03 0 0 0 None 0 0 2.49941E-04 0 0
R/Q None -0.493 0.985 N 0.476 0.272 None gnomAD-4.0.0 1.49953E-04 None None None None N None 1.33504E-05 6.67134E-04 None 0 2.23045E-05 None 4.68809E-05 3.28731E-04 1.55935E-04 1.09782E-05 1.60046E-04
R/W rs116158152 -0.425 1.0 N 0.492 0.471 None gnomAD-2.1.1 1.99E-05 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 3.52E-05 0
R/W rs116158152 -0.425 1.0 N 0.492 0.471 None gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
R/W rs116158152 -0.425 1.0 N 0.492 0.471 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
R/W rs116158152 -0.425 1.0 N 0.492 0.471 None gnomAD-4.0.0 1.1153E-05 None None None None N None 0 0 None 0 0 None 0 0 1.27123E-05 1.09794E-05 3.2001E-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
R/A 0.5509 ambiguous 0.6743 pathogenic -0.521 Destabilizing 0.863 D 0.481 neutral None None None None N
R/C 0.3999 ambiguous 0.4864 ambiguous -0.702 Destabilizing 0.999 D 0.441 neutral None None None None N
R/D 0.8002 likely_pathogenic 0.8638 pathogenic -0.278 Destabilizing 0.969 D 0.466 neutral None None None None N
R/E 0.4895 ambiguous 0.5654 pathogenic -0.127 Destabilizing 0.863 D 0.442 neutral None None None None N
R/F 0.803 likely_pathogenic 0.8629 pathogenic -0.358 Destabilizing 0.997 D 0.433 neutral None None None None N
R/G 0.4221 ambiguous 0.5557 ambiguous -0.812 Destabilizing 0.983 D 0.499 neutral N 0.462496286 None None N
R/H 0.1823 likely_benign 0.2303 benign -1.242 Destabilizing 0.997 D 0.439 neutral None None None None N
R/I 0.5194 ambiguous 0.5949 pathogenic 0.257 Stabilizing 0.997 D 0.449 neutral None None None None N
R/K 0.1195 likely_benign 0.1368 benign -0.415 Destabilizing 0.028 N 0.205 neutral None None None None N
R/L 0.3996 ambiguous 0.4925 ambiguous 0.257 Stabilizing 0.983 D 0.499 neutral N 0.434947321 None None N
R/M 0.5033 ambiguous 0.596 pathogenic -0.387 Destabilizing 0.997 D 0.446 neutral None None None None N
R/N 0.6967 likely_pathogenic 0.7868 pathogenic -0.453 Destabilizing 0.969 D 0.453 neutral None None None None N
R/P 0.4181 ambiguous 0.57 pathogenic 0.018 Stabilizing 0.998 D 0.467 neutral N 0.378928834 None None N
R/Q 0.1432 likely_benign 0.1818 benign -0.4 Destabilizing 0.985 D 0.476 neutral N 0.456904444 None None N
R/S 0.6835 likely_pathogenic 0.7939 pathogenic -0.939 Destabilizing 0.939 D 0.499 neutral None None None None N
R/T 0.4909 ambiguous 0.6102 pathogenic -0.6 Destabilizing 0.969 D 0.502 neutral None None None None N
R/V 0.5812 likely_pathogenic 0.667 pathogenic 0.018 Stabilizing 0.991 D 0.429 neutral None None None None N
R/W 0.4462 ambiguous 0.5444 ambiguous -0.239 Destabilizing 1.0 D 0.492 neutral N 0.512166585 None None N
R/Y 0.6129 likely_pathogenic 0.6977 pathogenic 0.079 Stabilizing 0.997 D 0.451 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.