Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2365071173;71174;71175 chr2:178575184;178575183;178575182chr2:179439911;179439910;179439909
N2AB2200966250;66251;66252 chr2:178575184;178575183;178575182chr2:179439911;179439910;179439909
N2A2108263469;63470;63471 chr2:178575184;178575183;178575182chr2:179439911;179439910;179439909
N2B1458543978;43979;43980 chr2:178575184;178575183;178575182chr2:179439911;179439910;179439909
Novex-11471044353;44354;44355 chr2:178575184;178575183;178575182chr2:179439911;179439910;179439909
Novex-21477744554;44555;44556 chr2:178575184;178575183;178575182chr2:179439911;179439910;179439909
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAC
  • RefSeq wild type template codon: TTG
  • Domain: Ig-130
  • Domain position: 14
  • Structural Position: 26
  • Q(SASA): 0.6276
  • 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
N/K rs377185608 0.308 0.027 N 0.336 0.061 0.0986583533028 gnomAD-2.1.1 2.52E-05 None None None None N None 2.07745E-04 2.85E-05 None 0 0 None 0 None 0 7.88E-06 0
N/K rs377185608 0.308 0.027 N 0.336 0.061 0.0986583533028 gnomAD-3.1.2 5.26E-05 None None None None N None 1.44851E-04 0 0 0 0 None 0 0 1.47E-05 0 4.78011E-04
N/K rs377185608 0.308 0.027 N 0.336 0.061 0.0986583533028 gnomAD-4.0.0 1.36425E-05 None None None None N None 2.00326E-04 3.33979E-05 None 0 0 None 0 0 2.54377E-06 0 3.20461E-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
N/A 0.1879 likely_benign 0.2089 benign -0.452 Destabilizing 0.149 N 0.354 neutral None None None None N
N/C 0.228 likely_benign 0.244 benign 0.468 Stabilizing 0.935 D 0.481 neutral None None None None N
N/D 0.1168 likely_benign 0.1288 benign -0.443 Destabilizing 0.117 N 0.367 neutral N 0.445124689 None None N
N/E 0.4143 ambiguous 0.4573 ambiguous -0.45 Destabilizing 0.081 N 0.325 neutral None None None None N
N/F 0.4907 ambiguous 0.5316 ambiguous -0.677 Destabilizing 0.38 N 0.439 neutral None None None None N
N/G 0.2525 likely_benign 0.2831 benign -0.682 Destabilizing 0.067 N 0.321 neutral None None None None N
N/H 0.0949 likely_benign 0.0949 benign -0.758 Destabilizing 0.001 N 0.256 neutral N 0.501423475 None None N
N/I 0.207 likely_benign 0.2418 benign 0.082 Stabilizing 0.484 N 0.439 neutral N 0.470177849 None None N
N/K 0.3052 likely_benign 0.3263 benign -0.043 Destabilizing 0.027 N 0.336 neutral N 0.441759096 None None N
N/L 0.2341 likely_benign 0.2518 benign 0.082 Stabilizing 0.149 N 0.389 neutral None None None None N
N/M 0.3191 likely_benign 0.3451 ambiguous 0.718 Stabilizing 0.935 D 0.402 neutral None None None None N
N/P 0.3356 likely_benign 0.3461 ambiguous -0.068 Destabilizing 0.555 D 0.411 neutral None None None None N
N/Q 0.3055 likely_benign 0.3277 benign -0.581 Destabilizing 0.38 N 0.331 neutral None None None None N
N/R 0.3049 likely_benign 0.3355 benign 0.053 Stabilizing None N 0.121 neutral None None None None N
N/S 0.0834 likely_benign 0.0862 benign -0.297 Destabilizing 0.117 N 0.375 neutral N 0.409779964 None None N
N/T 0.1075 likely_benign 0.1154 benign -0.156 Destabilizing 0.211 N 0.305 neutral N 0.416417935 None None N
N/V 0.1913 likely_benign 0.2223 benign -0.068 Destabilizing 0.555 D 0.415 neutral None None None None N
N/W 0.7853 likely_pathogenic 0.8163 pathogenic -0.599 Destabilizing 0.935 D 0.573 neutral None None None None N
N/Y 0.1852 likely_benign 0.2061 benign -0.354 Destabilizing 0.188 N 0.411 neutral N 0.507792087 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.