Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3085492785;92786;92787 chr2:178549066;178549065;178549064chr2:179413793;179413792;179413791
N2AB2921387862;87863;87864 chr2:178549066;178549065;178549064chr2:179413793;179413792;179413791
N2A2828685081;85082;85083 chr2:178549066;178549065;178549064chr2:179413793;179413792;179413791
N2B2178965590;65591;65592 chr2:178549066;178549065;178549064chr2:179413793;179413792;179413791
Novex-12191465965;65966;65967 chr2:178549066;178549065;178549064chr2:179413793;179413792;179413791
Novex-22198166166;66167;66168 chr2:178549066;178549065;178549064chr2:179413793;179413792;179413791
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Fn3-113
  • Domain position: 34
  • Structural Position: 36
  • Q(SASA): 0.3933
  • 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
I/T rs368427408 -0.987 0.008 N 0.263 0.258 None gnomAD-2.1.1 3.93E-05 None None None None I None 0 0 None 0 0 None 9.8E-05 None 0 6.25E-05 0
I/T rs368427408 -0.987 0.008 N 0.263 0.258 None gnomAD-3.1.2 3.29E-05 None None None None I None 0 0 0 0 0 None 0 0 7.35E-05 0 0
I/T rs368427408 -0.987 0.008 N 0.263 0.258 None gnomAD-4.0.0 2.16892E-05 None None None None I None 1.33508E-05 0 None 0 0 None 0 0 1.69516E-05 1.53714E-04 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 0.1396 likely_benign 0.144 benign -0.875 Destabilizing 0.415 N 0.575 neutral None None None None I
I/C 0.6359 likely_pathogenic 0.6698 pathogenic -0.701 Destabilizing 0.996 D 0.617 neutral None None None None I
I/D 0.6719 likely_pathogenic 0.714 pathogenic -0.22 Destabilizing 0.923 D 0.664 neutral None None None None I
I/E 0.5181 ambiguous 0.5605 ambiguous -0.284 Destabilizing 0.923 D 0.648 neutral None None None None I
I/F 0.146 likely_benign 0.1639 benign -0.663 Destabilizing 0.901 D 0.541 neutral N 0.489713302 None None I
I/G 0.5218 ambiguous 0.557 ambiguous -1.09 Destabilizing 0.923 D 0.597 neutral None None None None I
I/H 0.4397 ambiguous 0.488 ambiguous -0.284 Destabilizing 0.996 D 0.696 prob.neutral None None None None I
I/K 0.3223 likely_benign 0.3426 ambiguous -0.53 Destabilizing 0.923 D 0.607 neutral None None None None I
I/L 0.0975 likely_benign 0.0987 benign -0.411 Destabilizing 0.075 N 0.239 neutral N 0.422875052 None None I
I/M 0.0929 likely_benign 0.0939 benign -0.429 Destabilizing 0.19 N 0.289 neutral N 0.467254181 None None I
I/N 0.3238 likely_benign 0.3425 ambiguous -0.341 Destabilizing 0.901 D 0.685 prob.neutral D 0.523385976 None None I
I/P 0.6905 likely_pathogenic 0.7253 pathogenic -0.531 Destabilizing 0.961 D 0.686 prob.neutral None None None None I
I/Q 0.382 ambiguous 0.4069 ambiguous -0.548 Destabilizing 0.961 D 0.693 prob.neutral None None None None I
I/R 0.2182 likely_benign 0.2413 benign 0.047 Stabilizing 0.923 D 0.685 prob.neutral None None None None I
I/S 0.1954 likely_benign 0.2088 benign -0.867 Destabilizing 0.565 D 0.575 neutral N 0.444866477 None None I
I/T 0.0633 likely_benign 0.062 benign -0.819 Destabilizing 0.008 N 0.263 neutral N 0.372214158 None None I
I/V 0.0971 likely_benign 0.0992 benign -0.531 Destabilizing 0.19 N 0.267 neutral N 0.487329176 None None I
I/W 0.6535 likely_pathogenic 0.6975 pathogenic -0.675 Destabilizing 0.996 D 0.771 deleterious None None None None I
I/Y 0.5 ambiguous 0.5497 ambiguous -0.446 Destabilizing 0.961 D 0.635 neutral 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.