Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC17875584;5585;5586 chr2:178776505;178776504;178776503chr2:179641232;179641231;179641230
N2AB17875584;5585;5586 chr2:178776505;178776504;178776503chr2:179641232;179641231;179641230
N2A17875584;5585;5586 chr2:178776505;178776504;178776503chr2:179641232;179641231;179641230
N2B17415446;5447;5448 chr2:178776505;178776504;178776503chr2:179641232;179641231;179641230
Novex-117415446;5447;5448 chr2:178776505;178776504;178776503chr2:179641232;179641231;179641230
Novex-217415446;5447;5448 chr2:178776505;178776504;178776503chr2:179641232;179641231;179641230
Novex-317875584;5585;5586 chr2:178776505;178776504;178776503chr2:179641232;179641231;179641230

Information

  • RefSeq wild type amino acid: H
  • RefSeq wild type transcript codon: CAC
  • RefSeq wild type template codon: GTG
  • Domain: Ig-8
  • Domain position: 85
  • Structural Position: 168
  • Q(SASA): 0.6931
  • 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
H/Y rs2092244300 None 0.986 N 0.533 0.412 0.404034981753 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
H/Y rs2092244300 None 0.986 N 0.533 0.412 0.404034981753 gnomAD-4.0.0 6.5716E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46985E-05 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
H/A 0.4601 ambiguous 0.4874 ambiguous -0.217 Destabilizing 0.863 D 0.49 neutral None None None None N
H/C 0.4177 ambiguous 0.4261 ambiguous 0.49 Stabilizing 0.999 D 0.557 neutral None None None None N
H/D 0.5137 ambiguous 0.55 ambiguous 0.041 Stabilizing 0.92 D 0.51 neutral N 0.438507272 None None N
H/E 0.4689 ambiguous 0.5269 ambiguous 0.104 Stabilizing 0.759 D 0.469 neutral None None None None N
H/F 0.4425 ambiguous 0.4649 ambiguous 0.681 Stabilizing 0.997 D 0.565 neutral None None None None N
H/G 0.6506 likely_pathogenic 0.6908 pathogenic -0.552 Destabilizing 0.969 D 0.501 neutral None None None None N
H/I 0.4822 ambiguous 0.5164 ambiguous 0.676 Stabilizing 0.997 D 0.569 neutral None None None None N
H/K 0.5414 ambiguous 0.5924 pathogenic 0.009 Stabilizing 0.759 D 0.497 neutral None None None None N
H/L 0.2686 likely_benign 0.2747 benign 0.676 Stabilizing 0.92 D 0.521 neutral N 0.450161249 None None N
H/M 0.5877 likely_pathogenic 0.605 pathogenic 0.5 Stabilizing 0.997 D 0.539 neutral None None None None N
H/N 0.1479 likely_benign 0.1676 benign 0.019 Stabilizing 0.959 D 0.541 neutral N 0.425992898 None None N
H/P 0.9278 likely_pathogenic 0.908 pathogenic 0.402 Stabilizing 0.996 D 0.564 neutral N 0.498630939 None None N
H/Q 0.2436 likely_benign 0.2874 benign 0.172 Stabilizing 0.059 N 0.227 neutral N 0.376431731 None None N
H/R 0.3079 likely_benign 0.3549 ambiguous -0.514 Destabilizing 0.92 D 0.533 neutral N 0.408721211 None None N
H/S 0.2862 likely_benign 0.317 benign -0.027 Destabilizing 0.939 D 0.511 neutral None None None None N
H/T 0.3226 likely_benign 0.3696 ambiguous 0.144 Stabilizing 0.969 D 0.518 neutral None None None None N
H/V 0.4024 ambiguous 0.4336 ambiguous 0.402 Stabilizing 0.969 D 0.553 neutral None None None None N
H/W 0.7086 likely_pathogenic 0.7167 pathogenic 0.855 Stabilizing 0.999 D 0.55 neutral None None None None N
H/Y 0.1925 likely_benign 0.2146 benign 1.061 Stabilizing 0.986 D 0.533 neutral N 0.394575645 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.