Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3086492815;92816;92817 chr2:178549036;178549035;178549034chr2:179413763;179413762;179413761
N2AB2922387892;87893;87894 chr2:178549036;178549035;178549034chr2:179413763;179413762;179413761
N2A2829685111;85112;85113 chr2:178549036;178549035;178549034chr2:179413763;179413762;179413761
N2B2179965620;65621;65622 chr2:178549036;178549035;178549034chr2:179413763;179413762;179413761
Novex-12192465995;65996;65997 chr2:178549036;178549035;178549034chr2:179413763;179413762;179413761
Novex-22199166196;66197;66198 chr2:178549036;178549035;178549034chr2:179413763;179413762;179413761
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAC
  • RefSeq wild type template codon: CTG
  • Domain: Fn3-113
  • Domain position: 44
  • Structural Position: 54
  • Q(SASA): 0.9792
  • 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
D/N rs200621611 0.275 0.873 N 0.384 0.138 None gnomAD-2.1.1 8.57E-05 None None None None N None 0 8.49E-05 None 0 1.02596E-04 None 9.8E-05 None 1.19923E-04 9.38E-05 1.40371E-04
D/N rs200621611 0.275 0.873 N 0.384 0.138 None gnomAD-3.1.2 5.91E-05 None None None None N None 4.83E-05 0 0 0 0 None 1.88573E-04 0 7.35E-05 0 0
D/N rs200621611 0.275 0.873 N 0.384 0.138 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
D/N rs200621611 0.275 0.873 N 0.384 0.138 None gnomAD-4.0.0 6.87782E-05 None None None None N None 2.66539E-05 6.666E-05 None 3.37815E-05 6.68777E-05 None 1.40616E-04 0 7.28914E-05 4.39155E-05 3.20092E-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
D/A 0.1221 likely_benign 0.119 benign 0.029 Stabilizing 0.201 N 0.369 neutral N 0.459056778 None None N
D/C 0.5039 ambiguous 0.4831 ambiguous -0.055 Destabilizing 0.992 D 0.381 neutral None None None None N
D/E 0.1208 likely_benign 0.1227 benign -0.283 Destabilizing 0.004 N 0.315 neutral N 0.442567173 None None N
D/F 0.4952 ambiguous 0.4879 ambiguous -0.054 Destabilizing 0.972 D 0.355 neutral None None None None N
D/G 0.1159 likely_benign 0.1112 benign -0.09 Destabilizing 0.002 N 0.311 neutral N 0.389962052 None None N
D/H 0.207 likely_benign 0.1971 benign 0.501 Stabilizing 0.957 D 0.343 neutral N 0.45901025 None None N
D/I 0.2778 likely_benign 0.2661 benign 0.273 Stabilizing 0.92 D 0.378 neutral None None None None N
D/K 0.289 likely_benign 0.2712 benign 0.493 Stabilizing 0.447 N 0.362 neutral None None None None N
D/L 0.3109 likely_benign 0.3034 benign 0.273 Stabilizing 0.85 D 0.375 neutral None None None None N
D/M 0.4869 ambiguous 0.4878 ambiguous 0.117 Stabilizing 0.992 D 0.355 neutral None None None None N
D/N 0.0836 likely_benign 0.0796 benign 0.246 Stabilizing 0.873 D 0.384 neutral N 0.46082486 None None N
D/P 0.5055 ambiguous 0.488 ambiguous 0.211 Stabilizing 0.92 D 0.369 neutral None None None None N
D/Q 0.2529 likely_benign 0.2482 benign 0.247 Stabilizing 0.739 D 0.317 neutral None None None None N
D/R 0.3353 likely_benign 0.3161 benign 0.702 Stabilizing 0.85 D 0.395 neutral None None None None N
D/S 0.0877 likely_benign 0.087 benign 0.154 Stabilizing 0.026 N 0.209 neutral None None None None N
D/T 0.1607 likely_benign 0.1601 benign 0.252 Stabilizing 0.447 N 0.366 neutral None None None None N
D/V 0.1694 likely_benign 0.1635 benign 0.211 Stabilizing 0.81 D 0.379 neutral N 0.506696009 None None N
D/W 0.8149 likely_pathogenic 0.8104 pathogenic -0.009 Destabilizing 0.992 D 0.474 neutral None None None None N
D/Y 0.2221 likely_benign 0.2046 benign 0.176 Stabilizing 0.985 D 0.353 neutral N 0.464290169 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.