Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2302569298;69299;69300 chr2:178577262;178577261;178577260chr2:179441989;179441988;179441987
N2AB2138464375;64376;64377 chr2:178577262;178577261;178577260chr2:179441989;179441988;179441987
N2A2045761594;61595;61596 chr2:178577262;178577261;178577260chr2:179441989;179441988;179441987
N2B1396042103;42104;42105 chr2:178577262;178577261;178577260chr2:179441989;179441988;179441987
Novex-11408542478;42479;42480 chr2:178577262;178577261;178577260chr2:179441989;179441988;179441987
Novex-21415242679;42680;42681 chr2:178577262;178577261;178577260chr2:179441989;179441988;179441987
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCT
  • RefSeq wild type template codon: GGA
  • Domain: Ig-128
  • Domain position: 76
  • Structural Position: 162
  • Q(SASA): 0.6982
  • 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
P/A None None 0.016 N 0.39 0.19 0.185906805712 gnomAD-4.0.0 6.84462E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.15974E-05 0
P/L None None 0.898 N 0.594 0.399 0.5073929853 gnomAD-4.0.0 1.59262E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85997E-06 0 0
P/S None None 0.898 N 0.517 0.247 0.24896430686 gnomAD-4.0.0 6.84462E-07 None None None None I None 0 0 None 0 2.53036E-05 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
P/A 0.143 likely_benign 0.1359 benign -0.507 Destabilizing 0.016 N 0.39 neutral N 0.470469503 None None I
P/C 0.6865 likely_pathogenic 0.687 pathogenic -0.735 Destabilizing 0.994 D 0.707 prob.neutral None None None None I
P/D 0.7095 likely_pathogenic 0.7257 pathogenic -0.243 Destabilizing 0.959 D 0.57 neutral None None None None I
P/E 0.5581 ambiguous 0.5793 pathogenic -0.331 Destabilizing 0.959 D 0.567 neutral None None None None I
P/F 0.8236 likely_pathogenic 0.7822 pathogenic -0.678 Destabilizing 0.994 D 0.68 prob.neutral None None None None I
P/G 0.5493 ambiguous 0.5802 pathogenic -0.639 Destabilizing 0.769 D 0.493 neutral None None None None I
P/H 0.4625 ambiguous 0.4415 ambiguous -0.097 Destabilizing 0.998 D 0.657 neutral N 0.486124083 None None I
P/I 0.4568 ambiguous 0.3931 ambiguous -0.298 Destabilizing 0.959 D 0.672 neutral None None None None I
P/K 0.6499 likely_pathogenic 0.6566 pathogenic -0.431 Destabilizing 0.959 D 0.572 neutral None None None None I
P/L 0.2663 likely_benign 0.2411 benign -0.298 Destabilizing 0.898 D 0.594 neutral N 0.512105482 None None I
P/M 0.5232 ambiguous 0.4797 ambiguous -0.537 Destabilizing 0.994 D 0.653 neutral None None None None I
P/N 0.5402 ambiguous 0.5424 ambiguous -0.254 Destabilizing 0.979 D 0.64 neutral None None None None I
P/Q 0.4063 ambiguous 0.404 ambiguous -0.436 Destabilizing 0.979 D 0.587 neutral None None None None I
P/R 0.4835 ambiguous 0.4819 ambiguous 0.043 Stabilizing 0.946 D 0.64 neutral N 0.507545024 None None I
P/S 0.2335 likely_benign 0.2639 benign -0.625 Destabilizing 0.898 D 0.517 neutral N 0.474525742 None None I
P/T 0.1861 likely_benign 0.1835 benign -0.606 Destabilizing 0.898 D 0.537 neutral N 0.486169674 None None I
P/V 0.3311 likely_benign 0.2873 benign -0.335 Destabilizing 0.921 D 0.525 neutral None None None None I
P/W 0.9111 likely_pathogenic 0.8991 pathogenic -0.754 Destabilizing 0.998 D 0.747 deleterious None None None None I
P/Y 0.736 likely_pathogenic 0.7123 pathogenic -0.466 Destabilizing 0.998 D 0.681 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.