Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC327110036;10037;10038 chr2:178764704;178764703;178764702chr2:179629431;179629430;179629429
N2AB327110036;10037;10038 chr2:178764704;178764703;178764702chr2:179629431;179629430;179629429
N2A327110036;10037;10038 chr2:178764704;178764703;178764702chr2:179629431;179629430;179629429
N2B32259898;9899;9900 chr2:178764704;178764703;178764702chr2:179629431;179629430;179629429
Novex-132259898;9899;9900 chr2:178764704;178764703;178764702chr2:179629431;179629430;179629429
Novex-232259898;9899;9900 chr2:178764704;178764703;178764702chr2:179629431;179629430;179629429
Novex-3327110036;10037;10038 chr2:178764704;178764703;178764702chr2:179629431;179629430;179629429

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCC
  • RefSeq wild type template codon: AGG
  • Domain: Ig-23
  • Domain position: 33
  • Structural Position: 47
  • Q(SASA): 0.2698
  • 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
S/A rs556720151 -0.448 None N 0.225 0.172 0.193865811164 gnomAD-2.1.1 3.54E-05 None None None None N None 4.00481E-04 0 None 0 0 None 0 None 0 0 0
S/A rs556720151 -0.448 None N 0.225 0.172 0.193865811164 gnomAD-3.1.2 1.11705E-04 None None None None N None 4.10133E-04 0 0 0 0 None 0 0 0 0 0
S/A rs556720151 -0.448 None N 0.225 0.172 0.193865811164 1000 genomes 3.99361E-04 None None None None N None 1.5E-03 0 None None 0 0 None None None 0 None
S/A rs556720151 -0.448 None N 0.225 0.172 0.193865811164 gnomAD-4.0.0 1.73467E-05 None None None None N None 3.46426E-04 0 None 0 0 None 0 0 0 0 3.19949E-05
S/F rs867536098 -0.554 None N 0.411 0.245 0.458013479912 gnomAD-2.1.1 3.98E-06 None None None None N None 0 2.89E-05 None 0 0 None 0 None 0 0 0
S/F rs867536098 -0.554 None N 0.411 0.245 0.458013479912 gnomAD-4.0.0 4.77164E-06 None None None None N None 0 2.28645E-05 None 0 0 None 0 0 2.85657E-06 0 3.02151E-05
S/P rs556720151 0.043 0.295 D 0.572 0.477 0.319402600006 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.83E-06 0
S/Y rs867536098 -0.271 0.093 D 0.589 0.363 0.489243007833 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.83E-06 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 0.0996 likely_benign 0.0914 benign -0.502 Destabilizing None N 0.225 neutral N 0.518267952 None None N
S/C 0.1217 likely_benign 0.1477 benign -0.133 Destabilizing 0.295 N 0.563 neutral D 0.541862009 None None N
S/D 0.6015 likely_pathogenic 0.7454 pathogenic -0.849 Destabilizing 0.072 N 0.538 neutral None None None None N
S/E 0.6571 likely_pathogenic 0.7582 pathogenic -0.674 Destabilizing 0.072 N 0.529 neutral None None None None N
S/F 0.167 likely_benign 0.1981 benign -0.314 Destabilizing None N 0.411 neutral N 0.514449954 None None N
S/G 0.2002 likely_benign 0.2603 benign -0.897 Destabilizing 0.016 N 0.517 neutral None None None None N
S/H 0.3501 ambiguous 0.4204 ambiguous -1.247 Destabilizing 0.628 D 0.565 neutral None None None None N
S/I 0.2107 likely_benign 0.2779 benign 0.495 Stabilizing 0.038 N 0.567 neutral None None None None N
S/K 0.7891 likely_pathogenic 0.8752 pathogenic -0.102 Destabilizing 0.072 N 0.519 neutral None None None None N
S/L 0.115 likely_benign 0.1523 benign 0.495 Stabilizing 0.016 N 0.539 neutral None None None None N
S/M 0.2398 likely_benign 0.2666 benign 0.408 Stabilizing 0.356 N 0.563 neutral None None None None N
S/N 0.2014 likely_benign 0.2793 benign -0.658 Destabilizing 0.072 N 0.555 neutral None None None None N
S/P 0.9468 likely_pathogenic 0.9831 pathogenic 0.199 Stabilizing 0.295 N 0.572 neutral D 0.675485789 None None N
S/Q 0.565 likely_pathogenic 0.6213 pathogenic -0.412 Destabilizing 0.356 N 0.556 neutral None None None None N
S/R 0.6324 likely_pathogenic 0.7616 pathogenic -0.482 Destabilizing 0.214 N 0.573 neutral None None None None N
S/T 0.0854 likely_benign 0.1004 benign -0.383 Destabilizing None N 0.224 neutral N 0.439175235 None None N
S/V 0.2116 likely_benign 0.2421 benign 0.199 Stabilizing 0.001 N 0.414 neutral None None None None N
S/W 0.3384 likely_benign 0.426 ambiguous -0.613 Destabilizing 0.676 D 0.638 neutral None None None None N
S/Y 0.1679 likely_benign 0.2008 benign -0.143 Destabilizing 0.093 N 0.589 neutral D 0.542006755 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.