Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1005730394;30395;30396 chr2:178704201;178704200;178704199chr2:179568928;179568927;179568926
N2AB974029443;29444;29445 chr2:178704201;178704200;178704199chr2:179568928;179568927;179568926
N2A881326662;26663;26664 chr2:178704201;178704200;178704199chr2:179568928;179568927;179568926
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Q
  • RefSeq wild type transcript codon: CAG
  • RefSeq wild type template codon: GTC
  • Domain: Ig-85
  • Domain position: 69
  • Structural Position: 153
  • Q(SASA): 0.5409
  • 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
Q/P None None 0.106 None 0.523 0.23 0.202086224978 gnomAD-4.0.0 4.10489E-06 None None None None N None 0 0 None 0 0 None 0 0 5.3964E-06 0 0
Q/R rs2075483683 None None None 0.16 0.102 0.0611884634855 gnomAD-4.0.0 6.84148E-07 None None None None N None 0 0 None 0 0 None 0 0 8.994E-07 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
Q/A 0.2092 likely_benign 0.2659 benign -0.63 Destabilizing 0.016 N 0.388 neutral None None None None N
Q/C 0.5838 likely_pathogenic 0.5972 pathogenic -0.03 Destabilizing 0.864 D 0.477 neutral None None None None N
Q/D 0.4374 ambiguous 0.5601 ambiguous -0.805 Destabilizing 0.016 N 0.439 neutral None None None None N
Q/E 0.0976 likely_benign 0.125 benign -0.74 Destabilizing None N 0.179 neutral None None None None N
Q/F 0.5475 ambiguous 0.6119 pathogenic -0.573 Destabilizing 0.356 N 0.499 neutral None None None None N
Q/G 0.311 likely_benign 0.4194 ambiguous -0.945 Destabilizing 0.031 N 0.476 neutral None None None None N
Q/H 0.1828 likely_benign 0.2168 benign -0.964 Destabilizing None N 0.229 neutral None None None None N
Q/I 0.249 likely_benign 0.2971 benign 0.156 Stabilizing 0.356 N 0.54 neutral None None None None N
Q/K 0.0697 likely_benign 0.0809 benign -0.235 Destabilizing None N 0.177 neutral None None None None N
Q/L 0.1104 likely_benign 0.1368 benign 0.156 Stabilizing 0.055 N 0.509 neutral None None None None N
Q/M 0.281 likely_benign 0.3441 ambiguous 0.723 Stabilizing 0.628 D 0.493 neutral None None None None N
Q/N 0.2712 likely_benign 0.3302 benign -0.784 Destabilizing 0.038 N 0.434 neutral None None None None N
Q/P 0.2236 likely_benign 0.3115 benign -0.076 Destabilizing 0.106 N 0.523 neutral None None None None N
Q/R 0.0771 likely_benign 0.076 benign -0.138 Destabilizing None N 0.16 neutral None None None None N
Q/S 0.2505 likely_benign 0.3147 benign -0.839 Destabilizing 0.016 N 0.441 neutral None None None None N
Q/T 0.1615 likely_benign 0.1928 benign -0.586 Destabilizing 0.072 N 0.505 neutral None None None None N
Q/V 0.1977 likely_benign 0.2216 benign -0.076 Destabilizing 0.072 N 0.508 neutral None None None None N
Q/W 0.3653 ambiguous 0.413 ambiguous -0.459 Destabilizing 0.864 D 0.492 neutral None None None None N
Q/Y 0.3764 ambiguous 0.4399 ambiguous -0.198 Destabilizing 0.12 N 0.565 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.