Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29213 | 87862;87863;87864 | chr2:178557717;178557716;178557715 | chr2:179422444;179422443;179422442 |
| N2AB | 27572 | 82939;82940;82941 | chr2:178557717;178557716;178557715 | chr2:179422444;179422443;179422442 |
| N2A | 26645 | 80158;80159;80160 | chr2:178557717;178557716;178557715 | chr2:179422444;179422443;179422442 |
| N2B | 20148 | 60667;60668;60669 | chr2:178557717;178557716;178557715 | chr2:179422444;179422443;179422442 |
| Novex-1 | 20273 | 61042;61043;61044 | chr2:178557717;178557716;178557715 | chr2:179422444;179422443;179422442 |
| Novex-2 | 20340 | 61243;61244;61245 | chr2:178557717;178557716;178557715 | chr2:179422444;179422443;179422442 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs1001957031  |
-2.238 | 0.998 | N | 0.691 | 0.321 | 0.297031009988 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 1.13186E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs1001957031 |
-2.238 | 0.998 | N | 0.691 | 0.321 | 0.297031009988 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs1001957031 |
-2.238 | 0.998 | N | 0.691 | 0.321 | 0.297031009988 | gnomAD-4.0.0 | 2.47861E-06 | None | None | None | None | N | None | 0 | 6.66756E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs780358002 |
-1.667 | 0.217 | N | 0.333 | 0.125 | 0.291694819147 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/R | rs780358002 |
-1.667 | 0.217 | N | 0.333 | 0.125 | 0.291694819147 | gnomAD-4.0.0 | 6.8417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15955E-05 | 0 |
| K/T | rs780358002 |
None | 0.998 | N | 0.707 | 0.359 | 0.326074293725 | gnomAD-4.0.0 | 2.05251E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69826E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7104 | likely_pathogenic | 0.7581 | pathogenic | -1.124 | Destabilizing | 0.996 | D | 0.652 | neutral | None | None | None | None | N |
| K/C | 0.666 | likely_pathogenic | 0.7131 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| K/D | 0.9841 | likely_pathogenic | 0.9871 | pathogenic | -1.738 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| K/E | 0.715 | likely_pathogenic | 0.7683 | pathogenic | -1.476 | Destabilizing | 0.989 | D | 0.648 | neutral | N | 0.514921209 | None | None | N |
| K/F | 0.9195 | likely_pathogenic | 0.9401 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| K/G | 0.8592 | likely_pathogenic | 0.8982 | pathogenic | -1.596 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| K/H | 0.6181 | likely_pathogenic | 0.6678 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| K/I | 0.7768 | likely_pathogenic | 0.776 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| K/L | 0.6541 | likely_pathogenic | 0.6694 | pathogenic | 0.195 | Stabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| K/M | 0.4186 | ambiguous | 0.4669 | ambiguous | -0.159 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.472306582 | None | None | N |
| K/N | 0.9335 | likely_pathogenic | 0.9473 | pathogenic | -1.787 | Destabilizing | 0.998 | D | 0.691 | prob.neutral | N | 0.472471648 | None | None | N |
| K/P | 0.9962 | likely_pathogenic | 0.9967 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| K/Q | 0.2599 | likely_benign | 0.3076 | benign | -1.435 | Destabilizing | 0.997 | D | 0.708 | prob.delet. | N | 0.48465423 | None | None | N |
| K/R | 0.0796 | likely_benign | 0.0852 | benign | -1.378 | Destabilizing | 0.217 | N | 0.333 | neutral | N | 0.407657671 | None | None | N |
| K/S | 0.7921 | likely_pathogenic | 0.8494 | pathogenic | -2.211 | Highly Destabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | N |
| K/T | 0.5524 | ambiguous | 0.6024 | pathogenic | -1.711 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | N | 0.478653764 | None | None | N |
| K/V | 0.6762 | likely_pathogenic | 0.6921 | pathogenic | -0.221 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| K/W | 0.9176 | likely_pathogenic | 0.9294 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| K/Y | 0.8327 | likely_pathogenic | 0.8625 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.771 | 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.