Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC15414846;4847;4848 chr2:178777444;178777443;178777442chr2:179642171;179642170;179642169
N2AB15414846;4847;4848 chr2:178777444;178777443;178777442chr2:179642171;179642170;179642169
N2A15414846;4847;4848 chr2:178777444;178777443;178777442chr2:179642171;179642170;179642169
N2B14954708;4709;4710 chr2:178777444;178777443;178777442chr2:179642171;179642170;179642169
Novex-114954708;4709;4710 chr2:178777444;178777443;178777442chr2:179642171;179642170;179642169
Novex-214954708;4709;4710 chr2:178777444;178777443;178777442chr2:179642171;179642170;179642169
Novex-315414846;4847;4848 chr2:178777444;178777443;178777442chr2:179642171;179642170;179642169

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-6
  • Domain position: 85
  • Structural Position: 169
  • Q(SASA): 0.3498
  • 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/M None None 0.984 N 0.6 0.349 0.531629458225 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 0
I/T rs1293333289 -1.04 0.896 N 0.566 0.533 0.703335290885 gnomAD-2.1.1 4E-06 None None None None I None 6.19E-05 0 None 0 0 None 0 None 0 0 0
I/T rs1293333289 -1.04 0.896 N 0.566 0.533 0.703335290885 gnomAD-4.0.0 3.18263E-06 None None None None I None 1.13122E-04 0 None 0 0 None 0 0 0 0 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 0.4516 ambiguous 0.4641 ambiguous -1.755 Destabilizing 0.702 D 0.534 neutral None None None None I
I/C 0.7685 likely_pathogenic 0.7872 pathogenic -1.406 Destabilizing 0.999 D 0.661 neutral None None None None I
I/D 0.9143 likely_pathogenic 0.9136 pathogenic -0.739 Destabilizing 0.996 D 0.767 deleterious None None None None I
I/E 0.8252 likely_pathogenic 0.825 pathogenic -0.633 Destabilizing 0.988 D 0.753 deleterious None None None None I
I/F 0.3037 likely_benign 0.3158 benign -0.99 Destabilizing 0.984 D 0.572 neutral N 0.425145206 None None I
I/G 0.8526 likely_pathogenic 0.8558 pathogenic -2.175 Highly Destabilizing 0.988 D 0.727 prob.delet. None None None None I
I/H 0.7653 likely_pathogenic 0.7749 pathogenic -1.287 Destabilizing 0.999 D 0.752 deleterious None None None None I
I/K 0.758 likely_pathogenic 0.7482 pathogenic -1.157 Destabilizing 0.988 D 0.755 deleterious None None None None I
I/L 0.1647 likely_benign 0.17 benign -0.63 Destabilizing 0.437 N 0.315 neutral N 0.482006266 None None I
I/M 0.153 likely_benign 0.156 benign -0.738 Destabilizing 0.984 D 0.6 neutral N 0.507774618 None None I
I/N 0.5678 likely_pathogenic 0.5606 ambiguous -1.206 Destabilizing 0.995 D 0.764 deleterious N 0.464631586 None None I
I/P 0.9872 likely_pathogenic 0.9864 pathogenic -0.976 Destabilizing 0.996 D 0.766 deleterious None None None None I
I/Q 0.7061 likely_pathogenic 0.711 pathogenic -1.179 Destabilizing 0.996 D 0.768 deleterious None None None None I
I/R 0.6777 likely_pathogenic 0.667 pathogenic -0.796 Destabilizing 0.988 D 0.767 deleterious None None None None I
I/S 0.5004 ambiguous 0.4979 ambiguous -1.996 Destabilizing 0.984 D 0.723 prob.delet. N 0.367334093 None None I
I/T 0.3404 ambiguous 0.3479 ambiguous -1.737 Destabilizing 0.896 D 0.566 neutral N 0.379147179 None None I
I/V 0.077 likely_benign 0.0806 benign -0.976 Destabilizing 0.004 N 0.189 neutral N 0.385560881 None None I
I/W 0.9498 likely_pathogenic 0.9502 pathogenic -1.073 Destabilizing 0.999 D 0.761 deleterious None None None None I
I/Y 0.7725 likely_pathogenic 0.7817 pathogenic -0.832 Destabilizing 0.996 D 0.692 prob.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.