Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29138 | 87637;87638;87639 | chr2:178557942;178557941;178557940 | chr2:179422669;179422668;179422667 |
| N2AB | 27497 | 82714;82715;82716 | chr2:178557942;178557941;178557940 | chr2:179422669;179422668;179422667 |
| N2A | 26570 | 79933;79934;79935 | chr2:178557942;178557941;178557940 | chr2:179422669;179422668;179422667 |
| N2B | 20073 | 60442;60443;60444 | chr2:178557942;178557941;178557940 | chr2:179422669;179422668;179422667 |
| Novex-1 | 20198 | 60817;60818;60819 | chr2:178557942;178557941;178557940 | chr2:179422669;179422668;179422667 |
| Novex-2 | 20265 | 61018;61019;61020 | chr2:178557942;178557941;178557940 | chr2:179422669;179422668;179422667 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | rs72648227  |
-2.667 | 1.0 | D | 0.834 | 0.724 | None | gnomAD-2.1.1 | 1.18768E-03 | None | None | None | None | N | None | 4.13E-05 | 5.3727E-04 | None | 7.15667E-03 | 0 | None | 3.69257E-03 | None | 1.10493E-03 | 6.4862E-04 | 2.10852E-03 |
| P/T | rs72648227 |
-2.667 | 1.0 | D | 0.834 | 0.724 | None | gnomAD-3.1.2 | 8.80559E-04 | None | None | None | None | N | None | 1.20656E-04 | 1.76748E-03 | 0 | 7.7765E-03 | 0 | None | 1.31827E-03 | 0 | 5.43878E-04 | 4.76585E-03 | 4.77555E-04 |
| P/T | rs72648227 |
-2.667 | 1.0 | D | 0.834 | 0.724 | None | 1000 genomes | 2.19649E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 4E-03 | None | None | None | 6.1E-03 | None |
| P/T | rs72648227 |
-2.667 | 1.0 | D | 0.834 | 0.724 | None | gnomAD-4.0.0 | 8.70411E-04 | None | None | None | None | N | None | 1.19933E-04 | 9.16361E-04 | None | 7.05938E-03 | 2.22846E-05 | None | 1.61597E-03 | 2.31023E-03 | 4.73791E-04 | 4.22705E-03 | 1.1205E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9257 | likely_pathogenic | 0.9326 | pathogenic | -1.861 | Destabilizing | 0.999 | D | 0.847 | deleterious | D | 0.626788721 | None | None | N |
| P/C | 0.9928 | likely_pathogenic | 0.9934 | pathogenic | -2.207 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -3.403 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/E | 0.9977 | likely_pathogenic | 0.9986 | pathogenic | -3.295 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/G | 0.9949 | likely_pathogenic | 0.9959 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/H | 0.9974 | likely_pathogenic | 0.9981 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.664772643 | None | None | N |
| P/I | 0.9918 | likely_pathogenic | 0.992 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/K | 0.9981 | likely_pathogenic | 0.9988 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/L | 0.9692 | likely_pathogenic | 0.9714 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.627192329 | None | None | N |
| P/M | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/Q | 0.9965 | likely_pathogenic | 0.9976 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/R | 0.9932 | likely_pathogenic | 0.9957 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.648551477 | None | None | N |
| P/S | 0.9918 | likely_pathogenic | 0.9933 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.664369034 | None | None | N |
| P/T | 0.9863 | likely_pathogenic | 0.988 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.639032727 | None | None | N |
| P/V | 0.9814 | likely_pathogenic | 0.9816 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.737 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.831 | deleterious | 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.