Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1420842847;42848;42849 chr2:178633877;178633876;178633875chr2:179498604;179498603;179498602
N2AB1256737924;37925;37926 chr2:178633877;178633876;178633875chr2:179498604;179498603;179498602
N2A1164035143;35144;35145 chr2:178633877;178633876;178633875chr2:179498604;179498603;179498602
N2B514315652;15653;15654 chr2:178633877;178633876;178633875chr2:179498604;179498603;179498602
Novex-1526816027;16028;16029 chr2:178633877;178633876;178633875chr2:179498604;179498603;179498602
Novex-2533516228;16229;16230 chr2:178633877;178633876;178633875chr2:179498604;179498603;179498602
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-92
  • Domain position: 67
  • Structural Position: 151
  • Q(SASA): 0.191
  • 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/T rs1391653235 -1.419 0.021 N 0.216 0.223 0.654688989383 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 1.78E-05 0
I/T rs1391653235 -1.419 0.021 N 0.216 0.223 0.654688989383 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.06954E-04 0
I/T rs1391653235 -1.419 0.021 N 0.216 0.223 0.654688989383 gnomAD-4.0.0 5.12602E-06 None None None None N None 0 0 None 0 0 None 0 0 7.18246E-06 1.34023E-05 0
I/V rs1447217875 -1.209 0.675 N 0.303 0.204 0.53046153047 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
I/V rs1447217875 -1.209 0.675 N 0.303 0.204 0.53046153047 gnomAD-4.0.0 1.59211E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43295E-05 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 0.41 ambiguous 0.3919 ambiguous -1.161 Destabilizing 0.863 D 0.425 neutral None None None None N
I/C 0.8061 likely_pathogenic 0.7998 pathogenic -0.886 Destabilizing 0.999 D 0.485 neutral None None None None N
I/D 0.688 likely_pathogenic 0.7433 pathogenic -0.22 Destabilizing 0.969 D 0.583 neutral None None None None N
I/E 0.5646 likely_pathogenic 0.6283 pathogenic -0.256 Destabilizing 0.969 D 0.582 neutral None None None None N
I/F 0.2735 likely_benign 0.2731 benign -0.856 Destabilizing 0.997 D 0.507 neutral None None None None N
I/G 0.7446 likely_pathogenic 0.751 pathogenic -1.413 Destabilizing 0.969 D 0.559 neutral None None None None N
I/H 0.6184 likely_pathogenic 0.6316 pathogenic -0.57 Destabilizing 0.999 D 0.556 neutral None None None None N
I/K 0.3981 ambiguous 0.4352 ambiguous -0.663 Destabilizing 0.92 D 0.582 neutral N 0.493783593 None None N
I/L 0.2125 likely_benign 0.2054 benign -0.582 Destabilizing 0.675 D 0.308 neutral N 0.504760825 None None N
I/M 0.1743 likely_benign 0.1699 benign -0.534 Destabilizing 0.996 D 0.491 neutral N 0.501767193 None None N
I/N 0.2756 likely_benign 0.2899 benign -0.517 Destabilizing 0.991 D 0.585 neutral None None None None N
I/P 0.86 likely_pathogenic 0.8925 pathogenic -0.741 Destabilizing 0.997 D 0.596 neutral None None None None N
I/Q 0.511 ambiguous 0.5461 ambiguous -0.694 Destabilizing 0.997 D 0.585 neutral None None None None N
I/R 0.3438 ambiguous 0.3668 ambiguous -0.11 Destabilizing 0.988 D 0.598 neutral N 0.49943991 None None N
I/S 0.319 likely_benign 0.3091 benign -1.135 Destabilizing 0.884 D 0.535 neutral None None None None N
I/T 0.189 likely_benign 0.1822 benign -1.051 Destabilizing 0.021 N 0.216 neutral N 0.404982287 None None N
I/V 0.1027 likely_benign 0.0974 benign -0.741 Destabilizing 0.675 D 0.303 neutral N 0.483666945 None None N
I/W 0.902 likely_pathogenic 0.9193 pathogenic -0.858 Destabilizing 0.999 D 0.593 neutral None None None None N
I/Y 0.6489 likely_pathogenic 0.6803 pathogenic -0.628 Destabilizing 0.997 D 0.525 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.