Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2840385432;85433;85434 chr2:178560925;178560924;178560923chr2:179425652;179425651;179425650
N2AB2676280509;80510;80511 chr2:178560925;178560924;178560923chr2:179425652;179425651;179425650
N2A2583577728;77729;77730 chr2:178560925;178560924;178560923chr2:179425652;179425651;179425650
N2B1933858237;58238;58239 chr2:178560925;178560924;178560923chr2:179425652;179425651;179425650
Novex-11946358612;58613;58614 chr2:178560925;178560924;178560923chr2:179425652;179425651;179425650
Novex-21953058813;58814;58815 chr2:178560925;178560924;178560923chr2:179425652;179425651;179425650
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: AGA
  • RefSeq wild type template codon: TCT
  • Domain: Ig-143
  • Domain position: 46
  • Structural Position: 115
  • Q(SASA): 0.3186
  • 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
R/T rs750869245 -0.656 0.001 N 0.264 0.236 0.42324137094 gnomAD-2.1.1 2.41E-05 None None None None N None 0 1.74004E-04 None 0 0 None 0 None 0 0 0
R/T rs750869245 -0.656 0.001 N 0.264 0.236 0.42324137094 gnomAD-4.0.0 1.1139E-05 None None None None N None 0 1.60066E-04 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
R/A 0.4005 ambiguous 0.4447 ambiguous -0.584 Destabilizing 0.072 N 0.405 neutral None None None None N
R/C 0.25 likely_benign 0.2664 benign -0.385 Destabilizing 0.968 D 0.607 neutral None None None None N
R/D 0.632 likely_pathogenic 0.6965 pathogenic 0.067 Stabilizing 0.567 D 0.467 neutral None None None None N
R/E 0.3881 ambiguous 0.423 ambiguous 0.196 Stabilizing 0.157 N 0.391 neutral None None None None N
R/F 0.5789 likely_pathogenic 0.6328 pathogenic -0.386 Destabilizing 0.726 D 0.583 neutral None None None None N
R/G 0.2261 likely_benign 0.2608 benign -0.911 Destabilizing 0.22 N 0.474 neutral N 0.48647671 None None N
R/H 0.1348 likely_benign 0.1473 benign -1.326 Destabilizing 0.726 D 0.415 neutral None None None None N
R/I 0.3277 likely_benign 0.3705 ambiguous 0.292 Stabilizing 0.497 N 0.565 neutral N 0.493415697 None None N
R/K 0.1065 likely_benign 0.1041 benign -0.559 Destabilizing 0.001 N 0.181 neutral N 0.505928005 None None N
R/L 0.2745 likely_benign 0.3204 benign 0.292 Stabilizing 0.157 N 0.473 neutral None None None None N
R/M 0.2805 likely_benign 0.3126 benign -0.034 Destabilizing 0.968 D 0.443 neutral None None None None N
R/N 0.5116 ambiguous 0.5745 pathogenic -0.009 Destabilizing 0.272 N 0.419 neutral None None None None N
R/P 0.6666 likely_pathogenic 0.7208 pathogenic 0.022 Stabilizing 0.726 D 0.498 neutral None None None None N
R/Q 0.1189 likely_benign 0.1272 benign -0.14 Destabilizing 0.396 N 0.451 neutral None None None None N
R/S 0.4998 ambiguous 0.5587 ambiguous -0.714 Destabilizing 0.124 N 0.391 neutral N 0.492655228 None None N
R/T 0.2732 likely_benign 0.2826 benign -0.399 Destabilizing 0.001 N 0.264 neutral N 0.513228245 None None N
R/V 0.4218 ambiguous 0.4723 ambiguous 0.022 Stabilizing 0.396 N 0.535 neutral None None None None N
R/W 0.2349 likely_benign 0.2431 benign -0.089 Destabilizing 0.968 D 0.639 neutral None None None None N
R/Y 0.4343 ambiguous 0.4972 ambiguous 0.215 Stabilizing 0.89 D 0.515 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.