Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC959829017;29018;29019 chr2:178707775;178707774;178707773chr2:179572502;179572501;179572500
N2AB928128066;28067;28068 chr2:178707775;178707774;178707773chr2:179572502;179572501;179572500
N2A835425285;25286;25287 chr2:178707775;178707774;178707773chr2:179572502;179572501;179572500
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: CCA
  • RefSeq wild type template codon: GGT
  • Domain: Ig-82
  • Domain position: 9
  • Structural Position: 11
  • Q(SASA): 0.4033
  • 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/S None None 0.001 None 0.302 0.127 0.148003135375 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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 0.0664 likely_benign 0.0663 benign -0.314 Destabilizing 0.001 N 0.35 neutral None None None None N
P/C 0.7158 likely_pathogenic 0.6185 pathogenic -0.664 Destabilizing 0.909 D 0.705 prob.neutral None None None None N
P/D 0.4423 ambiguous 0.4054 ambiguous -0.061 Destabilizing 0.396 N 0.525 neutral None None None None N
P/E 0.3385 likely_benign 0.3099 benign -0.177 Destabilizing 0.157 N 0.511 neutral None None None None N
P/F 0.6877 likely_pathogenic 0.5958 pathogenic -0.585 Destabilizing 0.726 D 0.702 prob.neutral None None None None N
P/G 0.3136 likely_benign 0.2956 benign -0.419 Destabilizing 0.157 N 0.483 neutral None None None None N
P/H 0.3018 likely_benign 0.2354 benign -0.042 Destabilizing 0.909 D 0.672 neutral None None None None N
P/I 0.4984 ambiguous 0.4559 ambiguous -0.19 Destabilizing 0.567 D 0.694 prob.neutral None None None None N
P/K 0.4936 ambiguous 0.4337 ambiguous -0.308 Destabilizing 0.157 N 0.514 neutral None None None None N
P/L 0.1983 likely_benign 0.1658 benign -0.19 Destabilizing 0.331 N 0.594 neutral None None None None N
P/M 0.4368 ambiguous 0.3926 ambiguous -0.332 Destabilizing 0.968 D 0.673 neutral None None None None N
P/N 0.3347 likely_benign 0.3145 benign -0.096 Destabilizing 0.396 N 0.649 neutral None None None None N
P/Q 0.2116 likely_benign 0.1835 benign -0.31 Destabilizing 0.497 N 0.609 neutral None None None None N
P/R 0.3199 likely_benign 0.2419 benign 0.14 Stabilizing 0.497 N 0.677 prob.neutral None None None None N
P/S 0.1048 likely_benign 0.0996 benign -0.458 Destabilizing 0.001 N 0.302 neutral None None None None N
P/T 0.117 likely_benign 0.1112 benign -0.472 Destabilizing 0.124 N 0.489 neutral None None None None N
P/V 0.3073 likely_benign 0.287 benign -0.198 Destabilizing 0.396 N 0.543 neutral None None None None N
P/W 0.8323 likely_pathogenic 0.7291 pathogenic -0.669 Destabilizing 0.968 D 0.678 prob.neutral None None None None N
P/Y 0.6602 likely_pathogenic 0.5702 pathogenic -0.362 Destabilizing 0.726 D 0.703 prob.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.