Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3096493115;93116;93117 chr2:178548736;178548735;178548734chr2:179413463;179413462;179413461
N2AB2932388192;88193;88194 chr2:178548736;178548735;178548734chr2:179413463;179413462;179413461
N2A2839685411;85412;85413 chr2:178548736;178548735;178548734chr2:179413463;179413462;179413461
N2B2189965920;65921;65922 chr2:178548736;178548735;178548734chr2:179413463;179413462;179413461
Novex-12202466295;66296;66297 chr2:178548736;178548735;178548734chr2:179413463;179413462;179413461
Novex-22209166496;66497;66498 chr2:178548736;178548735;178548734chr2:179413463;179413462;179413461
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCT
  • RefSeq wild type template codon: AGA
  • Domain: Ig-150
  • Domain position: 38
  • Structural Position: 55
  • Q(SASA): 0.4459
  • 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
S/A rs752684712 -0.166 0.005 N 0.243 0.091 0.220303561663 gnomAD-2.1.1 3.62E-05 None None None None N None 0 2.60764E-04 None 0 0 None 0 None 0 0 0
S/A rs752684712 -0.166 0.005 N 0.243 0.091 0.220303561663 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.54E-05 0 0 0 None 0 0 0 0 0
S/A rs752684712 -0.166 0.005 N 0.243 0.091 0.220303561663 gnomAD-4.0.0 1.15302E-05 None None None None N None 0 1.52511E-04 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
S/A 0.0764 likely_benign 0.0777 benign -0.345 Destabilizing 0.005 N 0.243 neutral N 0.483652231 None None N
S/C 0.0963 likely_benign 0.0949 benign -0.276 Destabilizing 0.997 D 0.397 neutral D 0.539526944 None None N
S/D 0.4202 ambiguous 0.4185 ambiguous 0.165 Stabilizing 0.915 D 0.364 neutral None None None None N
S/E 0.549 ambiguous 0.5416 ambiguous 0.1 Stabilizing 0.842 D 0.358 neutral None None None None N
S/F 0.2271 likely_benign 0.2305 benign -0.809 Destabilizing 0.966 D 0.482 neutral N 0.520767824 None None N
S/G 0.0772 likely_benign 0.0742 benign -0.504 Destabilizing 0.002 N 0.199 neutral None None None None N
S/H 0.3727 ambiguous 0.372 ambiguous -0.985 Destabilizing 0.998 D 0.385 neutral None None None None N
S/I 0.1515 likely_benign 0.1473 benign -0.052 Destabilizing 0.949 D 0.493 neutral None None None None N
S/K 0.6834 likely_pathogenic 0.6987 pathogenic -0.547 Destabilizing 0.842 D 0.363 neutral None None None None N
S/L 0.1102 likely_benign 0.111 benign -0.052 Destabilizing 0.842 D 0.437 neutral None None None None N
S/M 0.1897 likely_benign 0.1855 benign 0.038 Stabilizing 0.998 D 0.383 neutral None None None None N
S/N 0.1409 likely_benign 0.1367 benign -0.295 Destabilizing 0.915 D 0.442 neutral None None None None N
S/P 0.6846 likely_pathogenic 0.659 pathogenic -0.118 Destabilizing 0.966 D 0.385 neutral N 0.509550753 None None N
S/Q 0.5025 ambiguous 0.4974 ambiguous -0.463 Destabilizing 0.974 D 0.399 neutral None None None None N
S/R 0.6005 likely_pathogenic 0.6143 pathogenic -0.387 Destabilizing 0.974 D 0.39 neutral None None None None N
S/T 0.0744 likely_benign 0.0731 benign -0.349 Destabilizing 0.801 D 0.428 neutral N 0.452753321 None None N
S/V 0.1466 likely_benign 0.143 benign -0.118 Destabilizing 0.728 D 0.445 neutral None None None None N
S/W 0.4303 ambiguous 0.4157 ambiguous -0.856 Destabilizing 0.998 D 0.531 neutral None None None None N
S/Y 0.2157 likely_benign 0.2095 benign -0.567 Destabilizing 0.989 D 0.479 neutral D 0.539353585 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.