Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1437843357;43358;43359 chr2:178632999;178632998;178632997chr2:179497726;179497725;179497724
N2AB1273738434;38435;38436 chr2:178632999;178632998;178632997chr2:179497726;179497725;179497724
N2A1181035653;35654;35655 chr2:178632999;178632998;178632997chr2:179497726;179497725;179497724
N2B531316162;16163;16164 chr2:178632999;178632998;178632997chr2:179497726;179497725;179497724
Novex-1543816537;16538;16539 chr2:178632999;178632998;178632997chr2:179497726;179497725;179497724
Novex-2550516738;16739;16740 chr2:178632999;178632998;178632997chr2:179497726;179497725;179497724
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: H
  • RefSeq wild type transcript codon: CAT
  • RefSeq wild type template codon: GTA
  • Domain: Ig-94
  • Domain position: 60
  • Structural Position: 141
  • Q(SASA): 0.1764
  • 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
H/Q rs2059987336 None 0.052 N 0.254 0.052 0.0986583533028 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
H/Q rs2059987336 None 0.052 N 0.254 0.052 0.0986583533028 gnomAD-4.0.0 6.57358E-06 None None None None N None 2.4122E-05 0 None 0 0 None 0 0 0 0 0
H/R rs878854307 None 0.026 N 0.217 0.106 0.0920862733494 gnomAD-4.0.0 1.59267E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86089E-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
H/A 0.5095 ambiguous 0.462 ambiguous -0.451 Destabilizing 0.015 N 0.268 neutral None None None None N
H/C 0.2284 likely_benign 0.2122 benign 0.102 Stabilizing 0.747 D 0.361 neutral None None None None N
H/D 0.3745 ambiguous 0.3529 ambiguous -0.567 Destabilizing 0.052 N 0.361 neutral N 0.436169418 None None N
H/E 0.3909 ambiguous 0.368 ambiguous -0.515 Destabilizing 0.029 N 0.199 neutral None None None None N
H/F 0.3659 ambiguous 0.3337 benign 0.047 Stabilizing 0.007 N 0.293 neutral None None None None N
H/G 0.403 ambiguous 0.3573 ambiguous -0.752 Destabilizing 0.068 N 0.311 neutral None None None None N
H/I 0.595 likely_pathogenic 0.5332 ambiguous 0.354 Stabilizing 0.035 N 0.42 neutral None None None None N
H/K 0.2541 likely_benign 0.2328 benign -0.368 Destabilizing 0.035 N 0.342 neutral None None None None N
H/L 0.234 likely_benign 0.2112 benign 0.354 Stabilizing 0.006 N 0.287 neutral N 0.431130499 None None N
H/M 0.7029 likely_pathogenic 0.6443 pathogenic 0.324 Stabilizing 0.204 N 0.335 neutral None None None None N
H/N 0.1607 likely_benign 0.1554 benign -0.29 Destabilizing 0.052 N 0.247 neutral N 0.431996154 None None N
H/P 0.2607 likely_benign 0.2777 benign 0.107 Stabilizing 0.371 N 0.472 neutral N 0.431674792 None None N
H/Q 0.2205 likely_benign 0.2026 benign -0.149 Destabilizing 0.052 N 0.254 neutral N 0.435944658 None None N
H/R 0.0987 likely_benign 0.0943 benign -0.626 Destabilizing 0.026 N 0.217 neutral N 0.418288309 None None N
H/S 0.3434 ambiguous 0.3149 benign -0.33 Destabilizing 0.035 N 0.295 neutral None None None None N
H/T 0.4723 ambiguous 0.4057 ambiguous -0.191 Destabilizing 0.035 N 0.335 neutral None None None None N
H/V 0.5144 ambiguous 0.4614 ambiguous 0.107 Stabilizing 0.015 N 0.333 neutral None None None None N
H/W 0.3217 likely_benign 0.2904 benign 0.03 Stabilizing 0.204 N 0.351 neutral None None None None N
H/Y 0.0663 likely_benign 0.0658 benign 0.402 Stabilizing None N 0.049 neutral N 0.380097531 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.