Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC34007102244;102245;102246 chr2:178534596;178534595;178534594chr2:179399323;179399322;179399321
N2AB3236697321;97322;97323 chr2:178534596;178534595;178534594chr2:179399323;179399322;179399321
N2A3143994540;94541;94542 chr2:178534596;178534595;178534594chr2:179399323;179399322;179399321
N2B2494275049;75050;75051 chr2:178534596;178534595;178534594chr2:179399323;179399322;179399321
Novex-12506775424;75425;75426 chr2:178534596;178534595;178534594chr2:179399323;179399322;179399321
Novex-22513475625;75626;75627 chr2:178534596;178534595;178534594chr2:179399323;179399322;179399321
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTG
  • RefSeq wild type template codon: CAC
  • Domain: Kinase-1
  • Domain position: 195
  • Q(SASA): 0.055
  • 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
V/A rs370702360 -2.544 None N None 0.382 None gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
V/A rs370702360 -2.544 None N None 0.382 None gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
V/A rs370702360 -2.544 None N None 0.382 None gnomAD-4.0.0 6.57056E-06 None None None None N None 2.41301E-05 0 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
V/A 0.8037 likely_pathogenic 0.8043 pathogenic -2.111 Highly Destabilizing None None None None N 0.470657851 None None N
V/C 0.9114 likely_pathogenic 0.9195 pathogenic -1.301 Destabilizing None None None None None None None None N
V/D 0.9856 likely_pathogenic 0.9866 pathogenic -2.981 Highly Destabilizing None None None None None None None None N
V/E 0.9648 likely_pathogenic 0.9644 pathogenic -2.669 Highly Destabilizing None None None None N 0.412542549 None None N
V/F 0.7176 likely_pathogenic 0.7318 pathogenic -1.186 Destabilizing None None None None None None None None N
V/G 0.861 likely_pathogenic 0.8754 pathogenic -2.672 Highly Destabilizing None None None None N 0.472341565 None None N
V/H 0.9812 likely_pathogenic 0.9793 pathogenic -2.767 Highly Destabilizing None None None None None None None None N
V/I 0.1522 likely_benign 0.1673 benign -0.455 Destabilizing None None None None None None None None N
V/K 0.9748 likely_pathogenic 0.9705 pathogenic -1.568 Destabilizing None None None None None None None None N
V/L 0.6038 likely_pathogenic 0.6351 pathogenic -0.455 Destabilizing None None None None N 0.469945775 None None N
V/M 0.632 likely_pathogenic 0.649 pathogenic -0.758 Destabilizing None None None None N 0.480952203 None None N
V/N 0.943 likely_pathogenic 0.9492 pathogenic -2.313 Highly Destabilizing None None None None None None None None N
V/P 0.9928 likely_pathogenic 0.9927 pathogenic -0.994 Destabilizing None None None None None None None None N
V/Q 0.9556 likely_pathogenic 0.9571 pathogenic -1.886 Destabilizing None None None None None None None None N
V/R 0.9483 likely_pathogenic 0.9447 pathogenic -1.881 Destabilizing None None None None None None None None N
V/S 0.8424 likely_pathogenic 0.8506 pathogenic -2.656 Highly Destabilizing None None None None None None None None N
V/T 0.721 likely_pathogenic 0.7084 pathogenic -2.194 Highly Destabilizing None None None None None None None None N
V/W 0.995 likely_pathogenic 0.9955 pathogenic -1.705 Destabilizing None None None None None None None None N
V/Y 0.9588 likely_pathogenic 0.9596 pathogenic -1.466 Destabilizing None None None None 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.