Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC22827069;7070;7071 chr2:178774420;178774419;178774418chr2:179639147;179639146;179639145
N2AB22827069;7070;7071 chr2:178774420;178774419;178774418chr2:179639147;179639146;179639145
N2A22827069;7070;7071 chr2:178774420;178774419;178774418chr2:179639147;179639146;179639145
N2B22366931;6932;6933 chr2:178774420;178774419;178774418chr2:179639147;179639146;179639145
Novex-122366931;6932;6933 chr2:178774420;178774419;178774418chr2:179639147;179639146;179639145
Novex-222366931;6932;6933 chr2:178774420;178774419;178774418chr2:179639147;179639146;179639145
Novex-322827069;7070;7071 chr2:178774420;178774419;178774418chr2:179639147;179639146;179639145

Information

  • RefSeq wild type amino acid: Y
  • RefSeq wild type transcript codon: TAT
  • RefSeq wild type template codon: ATA
  • Domain: Ig-12
  • Domain position: 16
  • Structural Position: 25
  • Q(SASA): 0.4155
  • 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
Y/F None None None N 0.157 0.057 0.101711395817 gnomAD-4.0.0 6.84216E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15937E-05 0
Y/H rs727503691 None 0.484 N 0.33 0.148 None gnomAD-3.1.2 1.31E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 0 0 0
Y/H rs727503691 None 0.484 N 0.33 0.148 None gnomAD-4.0.0 2.47906E-06 None None None None N None 4.00374E-05 0 None 0 0 None 0 0 8.47629E-07 0 0
Y/S rs754307416 -1.211 0.211 N 0.295 0.146 0.239305524855 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
Y/S rs754307416 -1.211 0.211 N 0.295 0.146 0.239305524855 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 4.77555E-04
Y/S rs754307416 -1.211 0.211 N 0.295 0.146 0.239305524855 gnomAD-4.0.0 4.33773E-06 None None None None N None 0 0 None 0 0 None 0 1.6442E-04 1.69499E-06 2.19578E-05 3.20082E-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
Y/A 0.4816 ambiguous 0.3349 benign -0.871 Destabilizing 0.149 N 0.337 neutral None None None None N
Y/C 0.1801 likely_benign 0.1327 benign -0.16 Destabilizing 0.915 D 0.297 neutral N 0.447719041 None None N
Y/D 0.5482 ambiguous 0.4072 ambiguous 0.983 Stabilizing 0.741 D 0.317 neutral N 0.348347129 None None N
Y/E 0.7676 likely_pathogenic 0.6443 pathogenic 0.985 Stabilizing 0.555 D 0.295 neutral None None None None N
Y/F 0.0509 likely_benign 0.0508 benign -0.377 Destabilizing None N 0.157 neutral N 0.433816223 None None N
Y/G 0.5407 ambiguous 0.4272 ambiguous -1.073 Destabilizing 0.262 N 0.327 neutral None None None None N
Y/H 0.2759 likely_benign 0.2101 benign 0.131 Stabilizing 0.484 N 0.33 neutral N 0.424646796 None None N
Y/I 0.4425 ambiguous 0.3097 benign -0.348 Destabilizing 0.081 N 0.317 neutral None None None None N
Y/K 0.7928 likely_pathogenic 0.6766 pathogenic 0.002 Stabilizing 0.555 D 0.293 neutral None None None None N
Y/L 0.5724 likely_pathogenic 0.3868 ambiguous -0.348 Destabilizing None N 0.168 neutral None None None None N
Y/M 0.582 likely_pathogenic 0.4331 ambiguous -0.242 Destabilizing 0.38 N 0.299 neutral None None None None N
Y/N 0.2911 likely_benign 0.2123 benign -0.248 Destabilizing 0.741 D 0.307 neutral N 0.435713314 None None N
Y/P 0.9743 likely_pathogenic 0.953 pathogenic -0.504 Destabilizing 0.791 D 0.315 neutral None None None None N
Y/Q 0.6157 likely_pathogenic 0.4799 ambiguous -0.158 Destabilizing 0.791 D 0.3 neutral None None None None N
Y/R 0.6431 likely_pathogenic 0.5226 ambiguous 0.264 Stabilizing 0.555 D 0.303 neutral None None None None N
Y/S 0.2283 likely_benign 0.1614 benign -0.753 Destabilizing 0.211 N 0.295 neutral N 0.420530684 None None N
Y/T 0.4661 ambiguous 0.3274 benign -0.658 Destabilizing 0.149 N 0.308 neutral None None None None N
Y/V 0.3614 ambiguous 0.2479 benign -0.504 Destabilizing 0.035 N 0.326 neutral None None None None N
Y/W 0.4396 ambiguous 0.3978 ambiguous -0.421 Destabilizing 0.555 D 0.339 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.