Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC35988108187;108188;108189 chr2:178527026;178527025;178527024chr2:179391753;179391752;179391751
N2AB34347103264;103265;103266 chr2:178527026;178527025;178527024chr2:179391753;179391752;179391751
N2A33420100483;100484;100485 chr2:178527026;178527025;178527024chr2:179391753;179391752;179391751
N2B2692380992;80993;80994 chr2:178527026;178527025;178527024chr2:179391753;179391752;179391751
Novex-12704881367;81368;81369 chr2:178527026;178527025;178527024chr2:179391753;179391752;179391751
Novex-22711581568;81569;81570 chr2:178527026;178527025;178527024chr2:179391753;179391752;179391751
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-169
  • Domain position: 92
  • Structural Position: 177
  • Q(SASA): 0.1102
  • 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
I/V None None 0.006 N 0.392 0.098 0.380901646489 gnomAD-4.0.0 3.60097E-06 None None None -0.752(OBSL1) -0.368(OBSCN) N None 0 0 None 0 0 None 0 0 3.93751E-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
I/A 0.9372 likely_pathogenic 0.946 pathogenic -2.071 Highly Destabilizing 0.754 D 0.537 neutral None None None -0.618(OBSL1) -0.155(OBSCN) N
I/C 0.9453 likely_pathogenic 0.9462 pathogenic -1.413 Destabilizing 0.998 D 0.624 neutral None None None -0.777(OBSL1) -1.022(OBSCN) N
I/D 0.9947 likely_pathogenic 0.9946 pathogenic -1.776 Destabilizing 0.993 D 0.676 prob.neutral None None None -0.709(OBSL1) -0.925(OBSCN) N
I/E 0.9867 likely_pathogenic 0.9861 pathogenic -1.736 Destabilizing 0.978 D 0.677 prob.neutral None None None -0.836(OBSL1) -1.091(OBSCN) N
I/F 0.6515 likely_pathogenic 0.6635 pathogenic -1.454 Destabilizing 0.942 D 0.576 neutral D 0.533315834 None -0.186(OBSL1) -0.134(OBSCN) N
I/G 0.9834 likely_pathogenic 0.9839 pathogenic -2.438 Highly Destabilizing 0.978 D 0.659 neutral None None None -0.559(OBSL1) -0.067(OBSCN) N
I/H 0.9783 likely_pathogenic 0.9758 pathogenic -1.647 Destabilizing 0.998 D 0.681 prob.neutral None None None -0.104(OBSL1) 0.032(OBSCN) N
I/K 0.9638 likely_pathogenic 0.954 pathogenic -1.391 Destabilizing 0.978 D 0.681 prob.neutral None None None -1.168(OBSL1) -1.196(OBSCN) N
I/L 0.4058 ambiguous 0.4078 ambiguous -1.098 Destabilizing 0.294 N 0.554 neutral N 0.492803716 None -0.825(OBSL1) -0.49(OBSCN) N
I/M 0.4666 ambiguous 0.4979 ambiguous -0.919 Destabilizing 0.942 D 0.599 neutral D 0.529825602 None -0.664(OBSL1) -0.652(OBSCN) N
I/N 0.9271 likely_pathogenic 0.9223 pathogenic -1.261 Destabilizing 0.99 D 0.689 prob.neutral D 0.530332581 None -0.759(OBSL1) -0.623(OBSCN) N
I/P 0.9789 likely_pathogenic 0.975 pathogenic -1.395 Destabilizing 0.993 D 0.685 prob.neutral None None None -0.752(OBSL1) -0.368(OBSCN) N
I/Q 0.9713 likely_pathogenic 0.9687 pathogenic -1.438 Destabilizing 0.993 D 0.693 prob.neutral None None None -0.779(OBSL1) -0.745(OBSCN) N
I/R 0.9417 likely_pathogenic 0.9245 pathogenic -0.827 Destabilizing 0.978 D 0.689 prob.neutral None None None -1.097(OBSL1) -1.123(OBSCN) N
I/S 0.9211 likely_pathogenic 0.9238 pathogenic -1.928 Destabilizing 0.942 D 0.587 neutral D 0.530079091 None -0.555(OBSL1) -0.393(OBSCN) N
I/T 0.8619 likely_pathogenic 0.8771 pathogenic -1.772 Destabilizing 0.822 D 0.597 neutral D 0.529825602 None -0.673(OBSL1) -0.555(OBSCN) N
I/V 0.1511 likely_benign 0.1622 benign -1.395 Destabilizing 0.006 N 0.392 neutral N 0.4460427 None -0.752(OBSL1) -0.368(OBSCN) N
I/W 0.9886 likely_pathogenic 0.9879 pathogenic -1.546 Destabilizing 0.998 D 0.66 neutral None None None -0.231(OBSL1) -0.41(OBSCN) N
I/Y 0.9438 likely_pathogenic 0.9358 pathogenic -1.333 Destabilizing 0.978 D 0.605 neutral None None None -0.228(OBSL1) -0.156(OBSCN) 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.