Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC738822387;22388;22389 chr2:178722737;178722736;178722735chr2:179587464;179587463;179587462
N2AB707121436;21437;21438 chr2:178722737;178722736;178722735chr2:179587464;179587463;179587462
N2A614418655;18656;18657 chr2:178722737;178722736;178722735chr2:179587464;179587463;179587462
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAT
  • RefSeq wild type template codon: TTA
  • Domain: Ig-58
  • Domain position: 66
  • Structural Position: 148
  • Q(SASA): 0.8635
  • Predicted PPI site: I

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 None None 0.096 N 0.122 0.081 0.0482279557977 gnomAD-4.0.0 6.8448E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99675E-07 0 0
N/S rs1350328102 0.488 None N 0.097 0.066 0.0297737177859 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.92E-06 0
N/S rs1350328102 0.488 None N 0.097 0.066 0.0297737177859 gnomAD-4.0.0 1.36894E-05 None None None None I None 5.97943E-05 0 None 0 0 None 0 0 1.52944E-05 0 1.65804E-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 0.0978 likely_benign 0.1271 benign -0.211 Destabilizing 0.025 N 0.211 neutral None None None None I
N/C 0.1692 likely_benign 0.2618 benign 0.37 Stabilizing 0.883 D 0.195 neutral None None None None I
N/D 0.0884 likely_benign 0.1082 benign 0.16 Stabilizing 0.081 N 0.126 neutral N 0.386500459 None None I
N/E 0.2073 likely_benign 0.2691 benign 0.107 Stabilizing 0.124 N 0.119 neutral None None None None I
N/F 0.2505 likely_benign 0.3233 benign -0.711 Destabilizing 0.001 N 0.176 neutral None None None None I
N/G 0.1065 likely_benign 0.1478 benign -0.343 Destabilizing None N 0.097 neutral None None None None I
N/H 0.0716 likely_benign 0.086 benign -0.381 Destabilizing 0.602 D 0.232 neutral N 0.452688166 None None I
N/I 0.1251 likely_benign 0.1588 benign 0.042 Stabilizing 0.096 N 0.286 neutral N 0.490475763 None None I
N/K 0.1557 likely_benign 0.2111 benign 0.182 Stabilizing 0.096 N 0.122 neutral N 0.399392399 None None I
N/L 0.1191 likely_benign 0.1478 benign 0.042 Stabilizing 0.055 N 0.231 neutral None None None None I
N/M 0.1797 likely_benign 0.2254 benign 0.317 Stabilizing 0.667 D 0.205 neutral None None None None I
N/P 0.264 likely_benign 0.3964 ambiguous -0.018 Destabilizing 0.22 N 0.291 neutral None None None None I
N/Q 0.1672 likely_benign 0.2198 benign -0.207 Destabilizing 0.497 N 0.204 neutral None None None None I
N/R 0.1512 likely_benign 0.2192 benign 0.254 Stabilizing 0.22 N 0.189 neutral None None None None I
N/S 0.0517 likely_benign 0.0584 benign 0.016 Stabilizing None N 0.097 neutral N 0.346056559 None None I
N/T 0.0707 likely_benign 0.0862 benign 0.092 Stabilizing 0.003 N 0.144 neutral N 0.422191901 None None I
N/V 0.1357 likely_benign 0.1778 benign -0.018 Destabilizing 0.004 N 0.195 neutral None None None None I
N/W 0.4053 ambiguous 0.5592 ambiguous -0.77 Destabilizing 0.958 D 0.203 neutral None None None None I
N/Y 0.099 likely_benign 0.1269 benign -0.473 Destabilizing 0.272 N 0.267 neutral N 0.464078596 None None I

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.