Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC508315472;15473;15474 chr2:178734577;178734576;178734575chr2:179599304;179599303;179599302
N2AB476614521;14522;14523 chr2:178734577;178734576;178734575chr2:179599304;179599303;179599302
N2A383911740;11741;11742 chr2:178734577;178734576;178734575chr2:179599304;179599303;179599302
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCT
  • RefSeq wild type template codon: GGA
  • Domain: Ig-34
  • Domain position: 9
  • Structural Position: 11
  • Q(SASA): 0.5436
  • 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
P/A None None 0.183 D 0.301 0.27 0.231231049324 gnomAD-4.0.0 9.80048E-06 None None None None N None 0 0 None 0 0 None 0 0 1.27838E-05 0 0
P/T rs1465484453 None 0.003 N 0.107 0.225 0.332133492242 gnomAD-4.0.0 1.40007E-06 None None None None N None 0 0 None 0 0 None 0 0 1.82626E-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
P/A 0.0955 likely_benign 0.0735 benign -0.425 Destabilizing 0.183 N 0.301 neutral D 0.543364656 None None N
P/C 0.6754 likely_pathogenic 0.5432 ambiguous -0.368 Destabilizing 0.983 D 0.369 neutral None None None None N
P/D 0.5348 ambiguous 0.3749 ambiguous -0.679 Destabilizing 0.418 N 0.403 neutral None None None None N
P/E 0.3602 ambiguous 0.2501 benign -0.819 Destabilizing 0.418 N 0.331 neutral None None None None N
P/F 0.6927 likely_pathogenic 0.5295 ambiguous -0.842 Destabilizing 0.002 N 0.223 neutral None None None None N
P/G 0.4262 ambiguous 0.2888 benign -0.529 Destabilizing 0.418 N 0.379 neutral None None None None N
P/H 0.3172 likely_benign 0.2108 benign -0.259 Destabilizing 0.794 D 0.361 neutral D 0.656200999 None None N
P/I 0.4786 ambiguous 0.3534 ambiguous -0.307 Destabilizing 0.264 N 0.375 neutral None None None None N
P/K 0.3941 ambiguous 0.2774 benign -0.433 Destabilizing 0.264 N 0.303 neutral None None None None N
P/L 0.1851 likely_benign 0.1418 benign -0.307 Destabilizing 0.001 N 0.16 neutral N 0.520880958 None None N
P/M 0.4213 ambiguous 0.3089 benign -0.259 Destabilizing 0.061 N 0.211 neutral None None None None N
P/N 0.4387 ambiguous 0.2854 benign -0.04 Destabilizing 0.418 N 0.462 neutral None None None None N
P/Q 0.2377 likely_benign 0.1576 benign -0.357 Destabilizing 0.716 D 0.43 neutral None None None None N
P/R 0.2774 likely_benign 0.1912 benign 0.127 Stabilizing 0.002 N 0.211 neutral D 0.598540719 None None N
P/S 0.1821 likely_benign 0.1179 benign -0.273 Destabilizing 0.101 N 0.307 neutral N 0.514246674 None None N
P/T 0.1494 likely_benign 0.1022 benign -0.33 Destabilizing 0.003 N 0.107 neutral N 0.515242999 None None N
P/V 0.3172 likely_benign 0.2329 benign -0.313 Destabilizing 0.129 N 0.305 neutral None None None None N
P/W 0.839 likely_pathogenic 0.719 pathogenic -0.931 Destabilizing 0.983 D 0.373 neutral None None None None N
P/Y 0.6323 likely_pathogenic 0.4764 ambiguous -0.624 Destabilizing 0.557 D 0.475 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.