Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC26728239;8240;8241 chr2:178771313;178771312;178771311chr2:179636040;179636039;179636038
N2AB26728239;8240;8241 chr2:178771313;178771312;178771311chr2:179636040;179636039;179636038
N2A26728239;8240;8241 chr2:178771313;178771312;178771311chr2:179636040;179636039;179636038
N2B26268101;8102;8103 chr2:178771313;178771312;178771311chr2:179636040;179636039;179636038
Novex-126268101;8102;8103 chr2:178771313;178771312;178771311chr2:179636040;179636039;179636038
Novex-226268101;8102;8103 chr2:178771313;178771312;178771311chr2:179636040;179636039;179636038
Novex-326728239;8240;8241 chr2:178771313;178771312;178771311chr2:179636040;179636039;179636038

Information

  • RefSeq wild type amino acid: H
  • RefSeq wild type transcript codon: CAC
  • RefSeq wild type template codon: GTG
  • Domain: Ig-16
  • Domain position: 52
  • Structural Position: 134
  • Q(SASA): 0.3604
  • 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/D rs1257617585 -0.131 0.007 N 0.389 0.177 0.168933306366 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.8E-06 0
H/D rs1257617585 -0.131 0.007 N 0.389 0.177 0.168933306366 gnomAD-4.0.0 1.59058E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8566E-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 0.149 likely_benign 0.1528 benign -0.355 Destabilizing None N 0.183 neutral None None None None N
H/C 0.1187 likely_benign 0.1161 benign 0.334 Stabilizing 0.497 N 0.477 neutral None None None None N
H/D 0.1394 likely_benign 0.1377 benign -0.075 Destabilizing 0.007 N 0.389 neutral N 0.411675333 None None N
H/E 0.1829 likely_benign 0.1779 benign -0.042 Destabilizing 0.004 N 0.195 neutral None None None None N
H/F 0.2045 likely_benign 0.2001 benign 0.218 Stabilizing 0.085 N 0.438 neutral None None None None N
H/G 0.173 likely_benign 0.1819 benign -0.649 Destabilizing 0.004 N 0.337 neutral None None None None N
H/I 0.1929 likely_benign 0.1817 benign 0.412 Stabilizing 0.009 N 0.466 neutral None None None None N
H/K 0.1135 likely_benign 0.1102 benign -0.32 Destabilizing 0.004 N 0.319 neutral None None None None N
H/L 0.0834 likely_benign 0.0805 benign 0.412 Stabilizing 0.003 N 0.424 neutral N 0.434506809 None None N
H/M 0.2745 likely_benign 0.2664 benign 0.369 Stabilizing 0.245 N 0.466 neutral None None None None N
H/N 0.0677 likely_benign 0.0694 benign -0.136 Destabilizing None N 0.096 neutral N 0.35713316 None None N
H/P 0.1297 likely_benign 0.1255 benign 0.181 Stabilizing 0.065 N 0.49 neutral N 0.442620588 None None N
H/Q 0.096 likely_benign 0.0953 benign -0.043 Destabilizing 0.033 N 0.233 neutral N 0.437988954 None None N
H/R 0.0655 likely_benign 0.0642 benign -0.707 Destabilizing None N 0.097 neutral N 0.38128584 None None N
H/S 0.1255 likely_benign 0.1329 benign -0.185 Destabilizing 0.004 N 0.282 neutral None None None None N
H/T 0.1398 likely_benign 0.1445 benign -0.06 Destabilizing 0.018 N 0.387 neutral None None None None N
H/V 0.1615 likely_benign 0.1505 benign 0.181 Stabilizing None N 0.237 neutral None None None None N
H/W 0.2876 likely_benign 0.2855 benign 0.315 Stabilizing 0.788 D 0.444 neutral None None None None N
H/Y 0.0846 likely_benign 0.0831 benign 0.618 Stabilizing 0.065 N 0.306 neutral N 0.470801149 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.