Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2232767204;67205;67206 chr2:178580400;178580399;178580398chr2:179445127;179445126;179445125
N2AB2068662281;62282;62283 chr2:178580400;178580399;178580398chr2:179445127;179445126;179445125
N2A1975959500;59501;59502 chr2:178580400;178580399;178580398chr2:179445127;179445126;179445125
N2B1326240009;40010;40011 chr2:178580400;178580399;178580398chr2:179445127;179445126;179445125
Novex-11338740384;40385;40386 chr2:178580400;178580399;178580398chr2:179445127;179445126;179445125
Novex-21345440585;40586;40587 chr2:178580400;178580399;178580398chr2:179445127;179445126;179445125
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Y
  • RefSeq wild type transcript codon: TAT
  • RefSeq wild type template codon: ATA
  • Domain: Ig-126
  • Domain position: 63
  • Structural Position: 148
  • Q(SASA): 0.812
  • 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
Y/C rs757701692 0.601 0.995 N 0.615 0.373 0.396494342077 gnomAD-2.1.1 4.03E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
Y/C rs757701692 0.601 0.995 N 0.615 0.373 0.396494342077 gnomAD-4.0.0 1.59235E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86036E-06 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
Y/A 0.558 ambiguous 0.603 pathogenic -0.377 Destabilizing 0.775 D 0.506 neutral None None None None I
Y/C 0.3115 likely_benign 0.3729 ambiguous 0.279 Stabilizing 0.995 D 0.615 neutral N 0.464793467 None None I
Y/D 0.2379 likely_benign 0.2587 benign 0.881 Stabilizing 0.008 N 0.42 neutral N 0.427133574 None None I
Y/E 0.6062 likely_pathogenic 0.6457 pathogenic 0.847 Stabilizing 0.633 D 0.511 neutral None None None None I
Y/F 0.1599 likely_benign 0.1584 benign -0.274 Destabilizing 0.84 D 0.523 neutral N 0.494476074 None None I
Y/G 0.5089 ambiguous 0.5488 ambiguous -0.536 Destabilizing 0.775 D 0.516 neutral None None None None I
Y/H 0.248 likely_benign 0.2666 benign 0.293 Stabilizing 0.018 N 0.29 neutral N 0.478237185 None None I
Y/I 0.6603 likely_pathogenic 0.7028 pathogenic None Stabilizing 0.961 D 0.532 neutral None None None None I
Y/K 0.6605 likely_pathogenic 0.7064 pathogenic 0.375 Stabilizing 0.923 D 0.5 neutral None None None None I
Y/L 0.5828 likely_pathogenic 0.6163 pathogenic None Stabilizing 0.775 D 0.517 neutral None None None None I
Y/M 0.6248 likely_pathogenic 0.6568 pathogenic 0.069 Stabilizing 0.996 D 0.548 neutral None None None None I
Y/N 0.1134 likely_benign 0.1155 benign 0.21 Stabilizing 0.82 D 0.484 neutral N 0.450453151 None None I
Y/P 0.9669 likely_pathogenic 0.9687 pathogenic -0.106 Destabilizing 0.961 D 0.616 neutral None None None None I
Y/Q 0.5638 ambiguous 0.6033 pathogenic 0.259 Stabilizing 0.923 D 0.53 neutral None None None None I
Y/R 0.5479 ambiguous 0.5862 pathogenic 0.541 Stabilizing 0.923 D 0.589 neutral None None None None I
Y/S 0.2811 likely_benign 0.3013 benign -0.146 Destabilizing 0.901 D 0.469 neutral N 0.425842708 None None I
Y/T 0.4781 ambiguous 0.5204 ambiguous -0.089 Destabilizing 0.923 D 0.502 neutral None None None None I
Y/V 0.5491 ambiguous 0.5914 pathogenic -0.106 Destabilizing 0.961 D 0.47 neutral None None None None I
Y/W 0.5147 ambiguous 0.5287 ambiguous -0.517 Destabilizing 0.996 D 0.541 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.