Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1821154856;54857;54858 chr2:178604056;178604055;178604054chr2:179468783;179468782;179468781
N2AB1657049933;49934;49935 chr2:178604056;178604055;178604054chr2:179468783;179468782;179468781
N2A1564347152;47153;47154 chr2:178604056;178604055;178604054chr2:179468783;179468782;179468781
N2B914627661;27662;27663 chr2:178604056;178604055;178604054chr2:179468783;179468782;179468781
Novex-1927128036;28037;28038 chr2:178604056;178604055;178604054chr2:179468783;179468782;179468781
Novex-2933828237;28238;28239 chr2:178604056;178604055;178604054chr2:179468783;179468782;179468781
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCT
  • RefSeq wild type template codon: GGA
  • Domain: Fn3-20
  • Domain position: 46
  • Structural Position: 63
  • Q(SASA): 0.5365
  • 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
P/L rs764772164 -0.051 None N 0.215 0.088 0.222439326576 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
P/L rs764772164 -0.051 None N 0.215 0.088 0.222439326576 gnomAD-4.0.0 1.86004E-06 None None None None N None 0 1.66761E-05 None 0 0 None 0 0 1.69609E-06 0 0
P/R rs764772164 None 0.001 N 0.211 0.065 0.126345400529 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
P/R rs764772164 None 0.001 N 0.211 0.065 0.126345400529 gnomAD-4.0.0 1.67415E-05 None None None None N None 0 0 None 0 0 None 0 0 2.20491E-05 0 1.60231E-05
P/S rs727504192 None None N 0.161 0.067 0.0297737177859 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
P/S rs727504192 None None N 0.161 0.067 0.0297737177859 gnomAD-4.0.0 6.58085E-06 None None None None N None 2.41406E-05 0 None 0 0 None 0 0 0 0 0
P/T rs727504192 -0.331 None N 0.163 0.059 None gnomAD-2.1.1 7.86E-05 None None None None N None 0 2.83E-05 None 0 0 None 0 None 0 1.64317E-04 0
P/T rs727504192 -0.331 None N 0.163 0.059 None gnomAD-3.1.2 8.56E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.76606E-04 0 0
P/T rs727504192 -0.331 None N 0.163 0.059 None gnomAD-4.0.0 2.03997E-04 None None None None N None 8.01775E-05 0 None 0 0 None 0 0 2.55258E-04 0 3.52485E-04

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
P/A 0.0642 likely_benign 0.0583 benign -0.438 Destabilizing None N 0.161 neutral N 0.434305554 None None N
P/C 0.3668 ambiguous 0.3186 benign -0.722 Destabilizing 0.018 N 0.527 neutral None None None None N
P/D 0.2736 likely_benign 0.2442 benign -0.309 Destabilizing None N 0.163 neutral None None None None N
P/E 0.2148 likely_benign 0.1835 benign -0.402 Destabilizing None N 0.163 neutral None None None None N
P/F 0.3657 ambiguous 0.2827 benign -0.643 Destabilizing 0.002 N 0.319 neutral None None None None N
P/G 0.1655 likely_benign 0.148 benign -0.548 Destabilizing None N 0.187 neutral None None None None N
P/H 0.1825 likely_benign 0.1451 benign 0.009 Stabilizing 0.006 N 0.511 neutral N 0.463455025 None None N
P/I 0.1649 likely_benign 0.135 benign -0.283 Destabilizing None N 0.216 neutral None None None None N
P/K 0.228 likely_benign 0.2041 benign -0.414 Destabilizing None N 0.175 neutral None None None None N
P/L 0.1059 likely_benign 0.09 benign -0.283 Destabilizing None N 0.215 neutral N 0.4234352 None None N
P/M 0.1974 likely_benign 0.1723 benign -0.579 Destabilizing 0.008 N 0.496 neutral None None None None N
P/N 0.1927 likely_benign 0.168 benign -0.235 Destabilizing None N 0.194 neutral None None None None N
P/Q 0.1349 likely_benign 0.1144 benign -0.426 Destabilizing 0.001 N 0.211 neutral None None None None N
P/R 0.1816 likely_benign 0.1452 benign 0.063 Stabilizing 0.001 N 0.211 neutral N 0.425667428 None None N
P/S 0.0875 likely_benign 0.0779 benign -0.574 Destabilizing None N 0.161 neutral N 0.369774073 None None N
P/T 0.0761 likely_benign 0.0672 benign -0.568 Destabilizing None N 0.163 neutral N 0.41950946 None None N
P/V 0.1147 likely_benign 0.0991 benign -0.304 Destabilizing None N 0.162 neutral None None None None N
P/W 0.5311 ambiguous 0.4361 ambiguous -0.71 Destabilizing 0.116 N 0.462 neutral None None None None N
P/Y 0.3324 likely_benign 0.2645 benign -0.432 Destabilizing 0.003 N 0.373 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.