Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1438443375;43376;43377 chr2:178632981;178632980;178632979chr2:179497708;179497707;179497706
N2AB1274338452;38453;38454 chr2:178632981;178632980;178632979chr2:179497708;179497707;179497706
N2A1181635671;35672;35673 chr2:178632981;178632980;178632979chr2:179497708;179497707;179497706
N2B531916180;16181;16182 chr2:178632981;178632980;178632979chr2:179497708;179497707;179497706
Novex-1544416555;16556;16557 chr2:178632981;178632980;178632979chr2:179497708;179497707;179497706
Novex-2551116756;16757;16758 chr2:178632981;178632980;178632979chr2:179497708;179497707;179497706
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: M
  • RefSeq wild type transcript codon: ATG
  • RefSeq wild type template codon: TAC
  • Domain: Ig-94
  • Domain position: 66
  • Structural Position: 149
  • Q(SASA): 0.1837
  • 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
M/I rs1454108479 -0.634 0.936 N 0.399 0.236 0.331619326243 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
M/I rs1454108479 -0.634 0.936 N 0.399 0.236 0.331619326243 gnomAD-4.0.0 1.59252E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02663E-05
M/V rs1450926397 None 0.665 N 0.362 0.203 0.315903272564 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
M/V rs1450926397 None 0.665 N 0.362 0.203 0.315903272564 gnomAD-4.0.0 2.03004E-06 None None None None N None 0 0 None 0 0 None 0 0 2.40996E-06 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
M/A 0.7575 likely_pathogenic 0.6935 pathogenic -1.814 Destabilizing 0.565 D 0.369 neutral None None None None N
M/C 0.9472 likely_pathogenic 0.9382 pathogenic -1.449 Destabilizing 0.996 D 0.521 neutral None None None None N
M/D 0.7073 likely_pathogenic 0.6658 pathogenic -0.396 Destabilizing 0.759 D 0.489 neutral None None None None N
M/E 0.6517 likely_pathogenic 0.6062 pathogenic -0.334 Destabilizing 0.394 N 0.347 neutral None None None None N
M/F 0.5138 ambiguous 0.4873 ambiguous -0.699 Destabilizing 0.986 D 0.483 neutral None None None None N
M/G 0.9015 likely_pathogenic 0.8713 pathogenic -2.167 Highly Destabilizing 0.864 D 0.471 neutral None None None None N
M/H 0.7013 likely_pathogenic 0.6467 pathogenic -1.14 Destabilizing 0.957 D 0.561 neutral None None None None N
M/I 0.6709 likely_pathogenic 0.6037 pathogenic -0.884 Destabilizing 0.936 D 0.399 neutral N 0.476134984 None None N
M/K 0.4932 ambiguous 0.4221 ambiguous -0.586 Destabilizing 0.329 N 0.37 neutral N 0.473295294 None None N
M/L 0.2417 likely_benign 0.2228 benign -0.884 Destabilizing 0.299 N 0.252 neutral N 0.410369972 None None N
M/N 0.6309 likely_pathogenic 0.5595 ambiguous -0.54 Destabilizing 0.864 D 0.514 neutral None None None None N
M/P 0.9806 likely_pathogenic 0.978 pathogenic -1.167 Destabilizing 0.951 D 0.587 neutral None None None None N
M/Q 0.3312 likely_benign 0.296 benign -0.546 Destabilizing 0.017 N 0.183 neutral None None None None N
M/R 0.5824 likely_pathogenic 0.5121 ambiguous -0.162 Destabilizing 0.704 D 0.52 neutral N 0.408840327 None None N
M/S 0.6813 likely_pathogenic 0.6212 pathogenic -1.222 Destabilizing 0.565 D 0.4 neutral None None None None N
M/T 0.5759 likely_pathogenic 0.4987 ambiguous -1.032 Destabilizing 0.828 D 0.488 neutral N 0.474240292 None None N
M/V 0.2947 likely_benign 0.2646 benign -1.167 Destabilizing 0.665 D 0.362 neutral N 0.476134984 None None N
M/W 0.7745 likely_pathogenic 0.7591 pathogenic -0.633 Destabilizing 0.996 D 0.506 neutral None None None None N
M/Y 0.7583 likely_pathogenic 0.7192 pathogenic -0.667 Destabilizing 0.986 D 0.644 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.