Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC29118956;8957;8958 chr2:178769850;178769849;178769848chr2:179634577;179634576;179634575
N2AB29118956;8957;8958 chr2:178769850;178769849;178769848chr2:179634577;179634576;179634575
N2A29118956;8957;8958 chr2:178769850;178769849;178769848chr2:179634577;179634576;179634575
N2B28658818;8819;8820 chr2:178769850;178769849;178769848chr2:179634577;179634576;179634575
Novex-128658818;8819;8820 chr2:178769850;178769849;178769848chr2:179634577;179634576;179634575
Novex-228658818;8819;8820 chr2:178769850;178769849;178769848chr2:179634577;179634576;179634575
Novex-329118956;8957;8958 chr2:178769850;178769849;178769848chr2:179634577;179634576;179634575

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCT
  • RefSeq wild type template codon: GGA
  • Domain: Ig-19
  • Domain position: 30
  • Structural Position: 45
  • Q(SASA): 0.283
  • 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
P/R rs770166191 0.123 1.0 D 0.821 0.747 0.768786753902 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.83E-06 0
P/R rs770166191 0.123 1.0 D 0.821 0.747 0.768786753902 gnomAD-4.0.0 1.59049E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85651E-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
P/A 0.589 likely_pathogenic 0.5526 ambiguous -0.26 Destabilizing 1.0 D 0.787 deleterious D 0.530845976 None None N
P/C 0.9843 likely_pathogenic 0.9829 pathogenic -0.641 Destabilizing 1.0 D 0.766 deleterious None None None None N
P/D 0.9607 likely_pathogenic 0.9556 pathogenic -0.236 Destabilizing 1.0 D 0.829 deleterious None None None None N
P/E 0.9224 likely_pathogenic 0.9002 pathogenic -0.355 Destabilizing 1.0 D 0.827 deleterious None None None None N
P/F 0.9868 likely_pathogenic 0.9861 pathogenic -0.635 Destabilizing 1.0 D 0.814 deleterious None None None None N
P/G 0.9395 likely_pathogenic 0.9377 pathogenic -0.34 Destabilizing 1.0 D 0.827 deleterious None None None None N
P/H 0.8607 likely_pathogenic 0.8539 pathogenic -0.013 Destabilizing 1.0 D 0.795 deleterious D 0.532465539 None None N
P/I 0.9669 likely_pathogenic 0.9642 pathogenic -0.197 Destabilizing 1.0 D 0.827 deleterious None None None None N
P/K 0.9403 likely_pathogenic 0.9351 pathogenic -0.299 Destabilizing 1.0 D 0.829 deleterious None None None None N
P/L 0.7619 likely_pathogenic 0.7387 pathogenic -0.197 Destabilizing 1.0 D 0.823 deleterious D 0.522893461 None None N
P/M 0.9611 likely_pathogenic 0.9575 pathogenic -0.409 Destabilizing 1.0 D 0.793 deleterious None None None None N
P/N 0.9481 likely_pathogenic 0.9433 pathogenic -0.051 Destabilizing 1.0 D 0.82 deleterious None None None None N
P/Q 0.8396 likely_pathogenic 0.8125 pathogenic -0.267 Destabilizing 1.0 D 0.819 deleterious None None None None N
P/R 0.8386 likely_pathogenic 0.8224 pathogenic 0.13 Stabilizing 1.0 D 0.821 deleterious D 0.526188201 None None N
P/S 0.7915 likely_pathogenic 0.7615 pathogenic -0.361 Destabilizing 1.0 D 0.821 deleterious D 0.530875368 None None N
P/T 0.7963 likely_pathogenic 0.754 pathogenic -0.383 Destabilizing 1.0 D 0.823 deleterious N 0.512083195 None None N
P/V 0.924 likely_pathogenic 0.9157 pathogenic -0.187 Destabilizing 1.0 D 0.83 deleterious None None None None N
P/W 0.9939 likely_pathogenic 0.9941 pathogenic -0.718 Destabilizing 1.0 D 0.772 deleterious None None None None N
P/Y 0.9793 likely_pathogenic 0.9776 pathogenic -0.414 Destabilizing 1.0 D 0.827 deleterious 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.