Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC34441103546;103547;103548 chr2:178533294;178533293;178533292chr2:179398021;179398020;179398019
N2AB3280098623;98624;98625 chr2:178533294;178533293;178533292chr2:179398021;179398020;179398019
N2A3187395842;95843;95844 chr2:178533294;178533293;178533292chr2:179398021;179398020;179398019
N2B2537676351;76352;76353 chr2:178533294;178533293;178533292chr2:179398021;179398020;179398019
Novex-12550176726;76727;76728 chr2:178533294;178533293;178533292chr2:179398021;179398020;179398019
Novex-22556876927;76928;76929 chr2:178533294;178533293;178533292chr2:179398021;179398020;179398019
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Ig-162
  • Domain position: 79
  • Structural Position: 162
  • Q(SASA): 0.8875
  • 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
T/A rs1166860726 None 0.09 N 0.425 0.121 0.15556083564 gnomAD-4.0.0 1.59097E-06 None None None None I None 0 0 None 0 2.77269E-05 None 0 0 0 0 0
T/P rs1166860726 0.026 0.773 N 0.356 0.323 0.361360026772 gnomAD-2.1.1 3.18E-05 None None None None I None 0 0 None 0 0 None 0 None 0 6.48E-05 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
T/A 0.098 likely_benign 0.0842 benign -0.188 Destabilizing 0.09 N 0.425 neutral N 0.420907474 None None I
T/C 0.6465 likely_pathogenic 0.5539 ambiguous -0.365 Destabilizing 0.944 D 0.425 neutral None None None None I
T/D 0.4621 ambiguous 0.382 ambiguous -0.042 Destabilizing 0.002 N 0.289 neutral None None None None I
T/E 0.3592 ambiguous 0.3204 benign -0.138 Destabilizing 0.241 N 0.359 neutral None None None None I
T/F 0.476 ambiguous 0.3462 ambiguous -0.853 Destabilizing 0.818 D 0.429 neutral None None None None I
T/G 0.3549 ambiguous 0.2786 benign -0.244 Destabilizing 0.116 N 0.392 neutral None None None None I
T/H 0.3555 ambiguous 0.2975 benign -0.45 Destabilizing 0.944 D 0.435 neutral None None None None I
T/I 0.3172 likely_benign 0.2301 benign -0.164 Destabilizing 0.627 D 0.361 neutral N 0.446363279 None None I
T/K 0.2751 likely_benign 0.2549 benign -0.323 Destabilizing 0.193 N 0.323 neutral N 0.405938022 None None I
T/L 0.1629 likely_benign 0.1284 benign -0.164 Destabilizing 0.388 N 0.327 neutral None None None None I
T/M 0.1252 likely_benign 0.1074 benign -0.129 Destabilizing 0.981 D 0.387 neutral None None None None I
T/N 0.1798 likely_benign 0.1457 benign -0.146 Destabilizing 0.241 N 0.328 neutral None None None None I
T/P 0.2014 likely_benign 0.1736 benign -0.148 Destabilizing 0.773 D 0.356 neutral N 0.408671683 None None I
T/Q 0.2985 likely_benign 0.2729 benign -0.361 Destabilizing 0.69 D 0.355 neutral None None None None I
T/R 0.2546 likely_benign 0.2283 benign -0.045 Destabilizing 0.627 D 0.358 neutral N 0.421080833 None None I
T/S 0.1066 likely_benign 0.0888 benign -0.293 Destabilizing 0.001 N 0.207 neutral N 0.356815924 None None I
T/V 0.2303 likely_benign 0.1774 benign -0.148 Destabilizing 0.388 N 0.313 neutral None None None None I
T/W 0.8208 likely_pathogenic 0.7343 pathogenic -0.937 Destabilizing 0.981 D 0.553 neutral None None None None I
T/Y 0.5107 ambiguous 0.4005 ambiguous -0.619 Destabilizing 0.818 D 0.432 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.