Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC642519498;19499;19500 chr2:178728653;178728652;178728651chr2:179593380;179593379;179593378
N2AB610818547;18548;18549 chr2:178728653;178728652;178728651chr2:179593380;179593379;179593378
N2A518115766;15767;15768 chr2:178728653;178728652;178728651chr2:179593380;179593379;179593378
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: I
  • RefSeq wild type transcript codon: ATA
  • RefSeq wild type template codon: TAT
  • Domain: Ig-48
  • Domain position: 41
  • Structural Position: 58
  • Q(SASA): 0.0914
  • 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
I/M rs1306888379 -0.94 0.007 N 0.325 0.169 0.230578612272 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
I/M rs1306888379 -0.94 0.007 N 0.325 0.169 0.230578612272 gnomAD-4.0.0 6.84414E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99616E-07 0 0
I/V rs1375877907 -1.43 None N 0.099 0.099 0.399159426805 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 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
I/A 0.6374 likely_pathogenic 0.5005 ambiguous -2.288 Highly Destabilizing 0.061 N 0.478 neutral None None None None N
I/C 0.9299 likely_pathogenic 0.887 pathogenic -1.555 Destabilizing 0.94 D 0.61 neutral None None None None N
I/D 0.9855 likely_pathogenic 0.9707 pathogenic -2.892 Highly Destabilizing 0.94 D 0.699 prob.neutral None None None None N
I/E 0.9579 likely_pathogenic 0.92 pathogenic -2.62 Highly Destabilizing 0.593 D 0.671 neutral None None None None N
I/F 0.3821 ambiguous 0.2837 benign -1.452 Destabilizing 0.002 N 0.199 neutral None None None None N
I/G 0.9487 likely_pathogenic 0.9109 pathogenic -2.819 Highly Destabilizing 0.593 D 0.631 neutral None None None None N
I/H 0.9343 likely_pathogenic 0.8804 pathogenic -2.364 Highly Destabilizing 0.94 D 0.643 neutral None None None None N
I/K 0.9102 likely_pathogenic 0.8388 pathogenic -1.799 Destabilizing 0.351 N 0.648 neutral N 0.507171762 None None N
I/L 0.0991 likely_benign 0.0852 benign -0.721 Destabilizing None N 0.079 neutral N 0.390755139 None None N
I/M 0.1192 likely_benign 0.0989 benign -0.735 Destabilizing 0.007 N 0.325 neutral N 0.516554083 None None N
I/N 0.881 likely_pathogenic 0.786 pathogenic -2.331 Highly Destabilizing 0.836 D 0.686 prob.neutral None None None None N
I/P 0.9464 likely_pathogenic 0.9162 pathogenic -1.23 Destabilizing 0.94 D 0.695 prob.neutral None None None None N
I/Q 0.9068 likely_pathogenic 0.8452 pathogenic -2.088 Highly Destabilizing 0.836 D 0.675 neutral None None None None N
I/R 0.8459 likely_pathogenic 0.7379 pathogenic -1.786 Destabilizing 0.655 D 0.701 prob.neutral N 0.507171762 None None N
I/S 0.8523 likely_pathogenic 0.734 pathogenic -2.916 Highly Destabilizing 0.418 N 0.581 neutral None None None None N
I/T 0.5977 likely_pathogenic 0.4114 ambiguous -2.485 Highly Destabilizing 0.183 N 0.515 neutral N 0.508902827 None None N
I/V 0.1156 likely_benign 0.0982 benign -1.23 Destabilizing None N 0.099 neutral N 0.46645055 None None N
I/W 0.9152 likely_pathogenic 0.8723 pathogenic -1.802 Destabilizing 0.983 D 0.638 neutral None None None None N
I/Y 0.8341 likely_pathogenic 0.7621 pathogenic -1.488 Destabilizing 0.264 N 0.609 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.