Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2952188786;88787;88788 chr2:178554898;178554897;178554896chr2:179419625;179419624;179419623
N2AB2788083863;83864;83865 chr2:178554898;178554897;178554896chr2:179419625;179419624;179419623
N2A2695381082;81083;81084 chr2:178554898;178554897;178554896chr2:179419625;179419624;179419623
N2B2045661591;61592;61593 chr2:178554898;178554897;178554896chr2:179419625;179419624;179419623
Novex-12058161966;61967;61968 chr2:178554898;178554897;178554896chr2:179419625;179419624;179419623
Novex-22064862167;62168;62169 chr2:178554898;178554897;178554896chr2:179419625;179419624;179419623
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCA
  • RefSeq wild type template codon: AGT
  • Domain: Ig-146
  • Domain position: 78
  • Structural Position: 165
  • Q(SASA): 0.6058
  • 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
S/L rs1436663696 0.015 0.801 N 0.473 0.379 0.677831437009 gnomAD-2.1.1 4.02E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
S/L rs1436663696 0.015 0.801 N 0.473 0.379 0.677831437009 gnomAD-4.0.0 1.59116E-06 None None None None I None 0 2.28634E-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
S/A 0.0866 likely_benign 0.0912 benign -0.224 Destabilizing 0.005 N 0.207 neutral N 0.485972726 None None I
S/C 0.1019 likely_benign 0.1015 benign -0.246 Destabilizing 0.037 N 0.361 neutral None None None None I
S/D 0.4607 ambiguous 0.4439 ambiguous 0.056 Stabilizing 0.915 D 0.327 neutral None None None None I
S/E 0.4691 ambiguous 0.4457 ambiguous -0.059 Destabilizing 0.842 D 0.329 neutral None None None None I
S/F 0.1373 likely_benign 0.133 benign -0.959 Destabilizing 0.991 D 0.519 neutral None None None None I
S/G 0.1316 likely_benign 0.136 benign -0.271 Destabilizing 0.728 D 0.269 neutral None None None None I
S/H 0.3339 likely_benign 0.3111 benign -0.728 Destabilizing 0.998 D 0.409 neutral None None None None I
S/I 0.1321 likely_benign 0.1338 benign -0.232 Destabilizing 0.949 D 0.489 neutral None None None None I
S/K 0.6256 likely_pathogenic 0.5971 pathogenic -0.345 Destabilizing 0.842 D 0.333 neutral None None None None I
S/L 0.0878 likely_benign 0.0918 benign -0.232 Destabilizing 0.801 D 0.473 neutral N 0.487911737 None None I
S/M 0.1624 likely_benign 0.1654 benign -0.043 Destabilizing 0.998 D 0.398 neutral None None None None I
S/N 0.1473 likely_benign 0.149 benign -0.039 Destabilizing 0.974 D 0.377 neutral None None None None I
S/P 0.6793 likely_pathogenic 0.7113 pathogenic -0.205 Destabilizing 0.966 D 0.409 neutral N 0.491127741 None None I
S/Q 0.4638 ambiguous 0.4459 ambiguous -0.307 Destabilizing 0.974 D 0.339 neutral None None None None I
S/R 0.5603 ambiguous 0.5294 ambiguous -0.133 Destabilizing 0.974 D 0.402 neutral None None None None I
S/T 0.0701 likely_benign 0.0728 benign -0.161 Destabilizing 0.051 N 0.212 neutral N 0.517186015 None None I
S/V 0.1347 likely_benign 0.1387 benign -0.205 Destabilizing 0.728 D 0.461 neutral None None None None I
S/W 0.3068 likely_benign 0.2842 benign -1.012 Destabilizing 0.998 D 0.585 neutral None None None None I
S/Y 0.1541 likely_benign 0.1502 benign -0.706 Destabilizing 0.991 D 0.52 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.