Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3063392122;92123;92124 chr2:178549825;178549824;178549823chr2:179414552;179414551;179414550
N2AB2899287199;87200;87201 chr2:178549825;178549824;178549823chr2:179414552;179414551;179414550
N2A2806584418;84419;84420 chr2:178549825;178549824;178549823chr2:179414552;179414551;179414550
N2B2156864927;64928;64929 chr2:178549825;178549824;178549823chr2:179414552;179414551;179414550
Novex-12169365302;65303;65304 chr2:178549825;178549824;178549823chr2:179414552;179414551;179414550
Novex-22176065503;65504;65505 chr2:178549825;178549824;178549823chr2:179414552;179414551;179414550
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACT
  • RefSeq wild type template codon: TGA
  • Domain: Fn3-111
  • Domain position: 15
  • Structural Position: 16
  • Q(SASA): 0.2833
  • 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
T/I rs780636599 None 0.971 N 0.653 0.434 0.403040389579 gnomAD-4.0.0 6.91676E-07 None None None None N None 0 0 None 0 0 None 0 0 9.07436E-07 0 0
T/N None None 0.89 N 0.613 0.259 None gnomAD-4.0.0 6.91676E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.67864E-05

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 0.157 likely_benign 0.2051 benign -0.914 Destabilizing 0.489 N 0.457 neutral N 0.473146892 None None N
T/C 0.5074 ambiguous 0.6112 pathogenic -0.668 Destabilizing 0.998 D 0.623 neutral None None None None N
T/D 0.4446 ambiguous 0.6069 pathogenic -1.052 Destabilizing 0.956 D 0.592 neutral None None None None N
T/E 0.5668 likely_pathogenic 0.7137 pathogenic -0.981 Destabilizing 0.956 D 0.595 neutral None None None None N
T/F 0.5016 ambiguous 0.6217 pathogenic -0.697 Destabilizing 0.978 D 0.679 prob.neutral None None None None N
T/G 0.2812 likely_benign 0.3507 ambiguous -1.251 Destabilizing 0.754 D 0.507 neutral None None None None N
T/H 0.3371 likely_benign 0.444 ambiguous -1.518 Destabilizing 0.994 D 0.656 neutral None None None None N
T/I 0.5488 ambiguous 0.6522 pathogenic -0.081 Destabilizing 0.971 D 0.653 neutral N 0.507166583 None None N
T/K 0.3658 ambiguous 0.4887 ambiguous -0.985 Destabilizing 0.915 D 0.601 neutral None None None None N
T/L 0.2299 likely_benign 0.2895 benign -0.081 Destabilizing 0.86 D 0.536 neutral None None None None N
T/M 0.1639 likely_benign 0.207 benign 0.187 Stabilizing 0.998 D 0.62 neutral None None None None N
T/N 0.1537 likely_benign 0.198 benign -1.19 Destabilizing 0.89 D 0.613 neutral N 0.476207858 None None N
T/P 0.5374 ambiguous 0.7052 pathogenic -0.326 Destabilizing 0.971 D 0.651 neutral N 0.515560374 None None N
T/Q 0.3487 ambiguous 0.4562 ambiguous -1.241 Destabilizing 0.956 D 0.642 neutral None None None None N
T/R 0.2819 likely_benign 0.4069 ambiguous -0.852 Destabilizing 0.956 D 0.657 neutral None None None None N
T/S 0.0919 likely_benign 0.1145 benign -1.386 Destabilizing 0.058 N 0.215 neutral N 0.447640211 None None N
T/V 0.4085 ambiguous 0.4871 ambiguous -0.326 Destabilizing 0.86 D 0.521 neutral None None None None N
T/W 0.7535 likely_pathogenic 0.8581 pathogenic -0.722 Destabilizing 0.998 D 0.671 neutral None None None None N
T/Y 0.4834 ambiguous 0.6087 pathogenic -0.462 Destabilizing 0.993 D 0.684 prob.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.