Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC562317092;17093;17094 chr2:178732102;178732101;178732100chr2:179596829;179596828;179596827
N2AB530616141;16142;16143 chr2:178732102;178732101;178732100chr2:179596829;179596828;179596827
N2A437913360;13361;13362 chr2:178732102;178732101;178732100chr2:179596829;179596828;179596827
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: G
  • RefSeq wild type transcript codon: GGC
  • RefSeq wild type template codon: CCG
  • Domain: Ig-39
  • Domain position: 81
  • Structural Position: 164
  • Q(SASA): 0.3103
  • Predicted PPI site: I

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
G/D None None 1.0 D 0.859 0.554 0.610312411291 gnomAD-4.0.0 6.84853E-07 None None None None I None 0 0 None 0 0 None 0 0 9.00203E-07 0 0
G/V rs768364912 0.066 1.0 D 0.839 0.619 0.812223674915 gnomAD-2.1.1 2.02E-05 None None None None I None 0 0 None 0 1.67056E-04 None 0 None 0 8.93E-06 1.66778E-04
G/V rs768364912 0.066 1.0 D 0.839 0.619 0.812223674915 gnomAD-4.0.0 5.47882E-06 None None None None I None 0 0 None 0 7.56125E-05 None 0 0 3.60081E-06 0 1.65837E-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
G/A 0.6305 likely_pathogenic 0.5829 pathogenic -0.236 Destabilizing 1.0 D 0.755 deleterious D 0.611980236 None None I
G/C 0.8738 likely_pathogenic 0.8297 pathogenic -0.808 Destabilizing 1.0 D 0.808 deleterious D 0.638729173 None None I
G/D 0.7813 likely_pathogenic 0.717 pathogenic -0.836 Destabilizing 1.0 D 0.859 deleterious D 0.604843852 None None I
G/E 0.8684 likely_pathogenic 0.804 pathogenic -1.017 Destabilizing 1.0 D 0.84 deleterious None None None None I
G/F 0.9615 likely_pathogenic 0.9416 pathogenic -1.13 Destabilizing 1.0 D 0.844 deleterious None None None None I
G/H 0.9354 likely_pathogenic 0.9031 pathogenic -0.453 Destabilizing 1.0 D 0.814 deleterious None None None None I
G/I 0.9534 likely_pathogenic 0.9285 pathogenic -0.487 Destabilizing 1.0 D 0.848 deleterious None None None None I
G/K 0.9279 likely_pathogenic 0.8832 pathogenic -0.667 Destabilizing 1.0 D 0.838 deleterious None None None None I
G/L 0.947 likely_pathogenic 0.9359 pathogenic -0.487 Destabilizing 1.0 D 0.838 deleterious None None None None I
G/M 0.9646 likely_pathogenic 0.9552 pathogenic -0.39 Destabilizing 1.0 D 0.808 deleterious None None None None I
G/N 0.8633 likely_pathogenic 0.8245 pathogenic -0.351 Destabilizing 1.0 D 0.817 deleterious None None None None I
G/P 0.9961 likely_pathogenic 0.9944 pathogenic -0.374 Destabilizing 1.0 D 0.865 deleterious None None None None I
G/Q 0.8904 likely_pathogenic 0.8465 pathogenic -0.707 Destabilizing 1.0 D 0.865 deleterious None None None None I
G/R 0.8378 likely_pathogenic 0.7673 pathogenic -0.178 Destabilizing 1.0 D 0.871 deleterious D 0.616361004 None None I
G/S 0.4626 ambiguous 0.399 ambiguous -0.418 Destabilizing 1.0 D 0.812 deleterious D 0.595355462 None None I
G/T 0.8423 likely_pathogenic 0.7905 pathogenic -0.546 Destabilizing 1.0 D 0.836 deleterious None None None None I
G/V 0.9025 likely_pathogenic 0.8605 pathogenic -0.374 Destabilizing 1.0 D 0.839 deleterious D 0.654344926 None None I
G/W 0.9376 likely_pathogenic 0.9098 pathogenic -1.245 Destabilizing 1.0 D 0.815 deleterious None None None None I
G/Y 0.9358 likely_pathogenic 0.9093 pathogenic -0.897 Destabilizing 1.0 D 0.842 deleterious None None None None I

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.