Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC545516588;16589;16590 chr2:178732698;178732697;178732696chr2:179597425;179597424;179597423
N2AB513815637;15638;15639 chr2:178732698;178732697;178732696chr2:179597425;179597424;179597423
N2A421112856;12857;12858 chr2:178732698;178732697;178732696chr2:179597425;179597424;179597423
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: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Ig-38
  • Domain position: 6
  • Structural Position: 7
  • Q(SASA): 0.5659
  • 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
K/E None None 0.026 N 0.196 0.114 0.178374595973 gnomAD-4.0.0 3.26803E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 6.1954E-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
K/A 0.2193 likely_benign 0.2235 benign -0.361 Destabilizing 0.919 D 0.573 neutral None None None None N
K/C 0.6716 likely_pathogenic 0.6586 pathogenic -0.4 Destabilizing 0.999 D 0.703 prob.neutral None None None None N
K/D 0.5254 ambiguous 0.5457 ambiguous 0.478 Stabilizing 0.851 D 0.557 neutral None None None None N
K/E 0.1208 likely_benign 0.1319 benign 0.534 Stabilizing 0.026 N 0.196 neutral N 0.46196101 None None N
K/F 0.595 likely_pathogenic 0.6053 pathogenic -0.402 Destabilizing 0.996 D 0.687 prob.neutral None None None None N
K/G 0.3651 ambiguous 0.3592 ambiguous -0.626 Destabilizing 0.919 D 0.589 neutral None None None None N
K/H 0.3264 likely_benign 0.3234 benign -0.959 Destabilizing 0.988 D 0.639 neutral None None None None N
K/I 0.2138 likely_benign 0.233 benign 0.28 Stabilizing 0.968 D 0.689 prob.neutral N 0.499692679 None None N
K/L 0.2241 likely_benign 0.2307 benign 0.28 Stabilizing 0.919 D 0.607 neutral None None None None N
K/M 0.1544 likely_benign 0.1625 benign 0.13 Stabilizing 0.999 D 0.633 neutral None None None None N
K/N 0.3688 ambiguous 0.3881 ambiguous 0.097 Stabilizing 0.103 N 0.205 neutral N 0.505346428 None None N
K/P 0.3363 likely_benign 0.3273 benign 0.096 Stabilizing 0.988 D 0.636 neutral None None None None N
K/Q 0.1127 likely_benign 0.1126 benign -0.026 Destabilizing 0.938 D 0.582 neutral N 0.466502825 None None N
K/R 0.0855 likely_benign 0.0828 benign -0.165 Destabilizing 0.896 D 0.528 neutral N 0.482856357 None None N
K/S 0.3095 likely_benign 0.3168 benign -0.586 Destabilizing 0.851 D 0.519 neutral None None None None N
K/T 0.133 likely_benign 0.1355 benign -0.343 Destabilizing 0.103 N 0.263 neutral N 0.471890002 None None N
K/V 0.1973 likely_benign 0.2092 benign 0.096 Stabilizing 0.919 D 0.607 neutral None None None None N
K/W 0.7223 likely_pathogenic 0.7144 pathogenic -0.303 Destabilizing 0.999 D 0.731 prob.delet. None None None None N
K/Y 0.4925 ambiguous 0.5046 ambiguous 0.027 Stabilizing 0.996 D 0.687 prob.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.