Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC20796460;6461;6462 chr2:178775629;178775628;178775627chr2:179640356;179640355;179640354
N2AB20796460;6461;6462 chr2:178775629;178775628;178775627chr2:179640356;179640355;179640354
N2A20796460;6461;6462 chr2:178775629;178775628;178775627chr2:179640356;179640355;179640354
N2B20336322;6323;6324 chr2:178775629;178775628;178775627chr2:179640356;179640355;179640354
Novex-120336322;6323;6324 chr2:178775629;178775628;178775627chr2:179640356;179640355;179640354
Novex-220336322;6323;6324 chr2:178775629;178775628;178775627chr2:179640356;179640355;179640354
Novex-320796460;6461;6462 chr2:178775629;178775628;178775627chr2:179640356;179640355;179640354

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Ig-10
  • Domain position: 2
  • Structural Position: 2
  • Q(SASA): 0.3609
  • 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
K/E None None 0.989 N 0.508 0.394 0.494299846589 gnomAD-4.0.0 1.59057E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85651E-06 0 0
K/R rs1395240027 -0.066 0.217 N 0.185 0.251 0.353761421236 gnomAD-2.1.1 3.18E-05 None None None None I None 0 1.17924E-03 None 0 0 None 0 None 0 0 0
K/R rs1395240027 -0.066 0.217 N 0.185 0.251 0.353761421236 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
K/R rs1395240027 -0.066 0.217 N 0.185 0.251 0.353761421236 gnomAD-4.0.0 6.57013E-06 None None None None I None 0 6.54707E-05 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
K/A 0.8987 likely_pathogenic 0.8573 pathogenic -0.278 Destabilizing 0.996 D 0.559 neutral None None None None I
K/C 0.9588 likely_pathogenic 0.9486 pathogenic -0.578 Destabilizing 1.0 D 0.736 prob.delet. None None None None I
K/D 0.9862 likely_pathogenic 0.9786 pathogenic -0.087 Destabilizing 0.999 D 0.663 neutral None None None None I
K/E 0.8173 likely_pathogenic 0.7429 pathogenic -0.002 Destabilizing 0.989 D 0.508 neutral N 0.461583147 None None I
K/F 0.9856 likely_pathogenic 0.9821 pathogenic -0.224 Destabilizing 1.0 D 0.685 prob.neutral None None None None I
K/G 0.9633 likely_pathogenic 0.9436 pathogenic -0.546 Destabilizing 0.999 D 0.568 neutral None None None None I
K/H 0.7236 likely_pathogenic 0.6759 pathogenic -0.596 Destabilizing 1.0 D 0.649 neutral None None None None I
K/I 0.8115 likely_pathogenic 0.7896 pathogenic 0.383 Stabilizing 0.999 D 0.704 prob.neutral N 0.494114603 None None I
K/L 0.8345 likely_pathogenic 0.8058 pathogenic 0.383 Stabilizing 0.999 D 0.568 neutral None None None None I
K/M 0.7713 likely_pathogenic 0.7229 pathogenic -0.137 Destabilizing 1.0 D 0.639 neutral None None None None I
K/N 0.9563 likely_pathogenic 0.9305 pathogenic -0.278 Destabilizing 0.998 D 0.639 neutral N 0.513099604 None None I
K/P 0.9959 likely_pathogenic 0.9937 pathogenic 0.191 Stabilizing 1.0 D 0.658 neutral None None None None I
K/Q 0.4885 ambiguous 0.4095 ambiguous -0.278 Destabilizing 0.997 D 0.633 neutral N 0.463118214 None None I
K/R 0.114 likely_benign 0.1034 benign -0.167 Destabilizing 0.217 N 0.185 neutral N 0.443703351 None None I
K/S 0.9434 likely_pathogenic 0.9159 pathogenic -0.756 Destabilizing 0.996 D 0.589 neutral None None None None I
K/T 0.7307 likely_pathogenic 0.6755 pathogenic -0.489 Destabilizing 0.998 D 0.639 neutral N 0.492997636 None None I
K/V 0.6927 likely_pathogenic 0.6732 pathogenic 0.191 Stabilizing 0.999 D 0.657 neutral None None None None I
K/W 0.9848 likely_pathogenic 0.9819 pathogenic -0.252 Destabilizing 1.0 D 0.752 deleterious None None None None I
K/Y 0.9669 likely_pathogenic 0.9608 pathogenic 0.071 Stabilizing 1.0 D 0.667 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.