Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29190 | 87793;87794;87795 | chr2:178557786;178557785;178557784 | chr2:179422513;179422512;179422511 |
| N2AB | 27549 | 82870;82871;82872 | chr2:178557786;178557785;178557784 | chr2:179422513;179422512;179422511 |
| N2A | 26622 | 80089;80090;80091 | chr2:178557786;178557785;178557784 | chr2:179422513;179422512;179422511 |
| N2B | 20125 | 60598;60599;60600 | chr2:178557786;178557785;178557784 | chr2:179422513;179422512;179422511 |
| Novex-1 | 20250 | 60973;60974;60975 | chr2:178557786;178557785;178557784 | chr2:179422513;179422512;179422511 |
| Novex-2 | 20317 | 61174;61175;61176 | chr2:178557786;178557785;178557784 | chr2:179422513;179422512;179422511 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs779302987  |
-0.341 | 0.497 | N | 0.501 | 0.184 | 0.202086224978 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/P | rs779302987 |
-0.341 | 0.497 | N | 0.501 | 0.184 | 0.202086224978 | gnomAD-4.0.0 | 1.36833E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79886E-06 | 0 | 0 |
| A/T | None | None | 0.001 | N | 0.329 | 0.024 | 0.0920862733494 | gnomAD-4.0.0 | 1.36833E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 8.99431E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4034 | ambiguous | 0.5078 | ambiguous | -0.798 | Destabilizing | 0.909 | D | 0.504 | neutral | None | None | None | None | N |
| A/D | 0.5577 | ambiguous | 0.6798 | pathogenic | -0.757 | Destabilizing | 0.157 | N | 0.542 | neutral | None | None | None | None | N |
| A/E | 0.4843 | ambiguous | 0.6192 | pathogenic | -0.906 | Destabilizing | 0.124 | N | 0.512 | neutral | N | 0.45547026 | None | None | N |
| A/F | 0.4787 | ambiguous | 0.5903 | pathogenic | -1.096 | Destabilizing | 0.726 | D | 0.595 | neutral | None | None | None | None | N |
| A/G | 0.1298 | likely_benign | 0.1521 | benign | -0.577 | Destabilizing | 0.055 | N | 0.483 | neutral | N | 0.474922813 | None | None | N |
| A/H | 0.575 | likely_pathogenic | 0.6926 | pathogenic | -0.617 | Destabilizing | 0.909 | D | 0.593 | neutral | None | None | None | None | N |
| A/I | 0.3185 | likely_benign | 0.5039 | ambiguous | -0.48 | Destabilizing | 0.396 | N | 0.497 | neutral | None | None | None | None | N |
| A/K | 0.58 | likely_pathogenic | 0.7333 | pathogenic | -0.75 | Destabilizing | 0.157 | N | 0.517 | neutral | None | None | None | None | N |
| A/L | 0.1998 | likely_benign | 0.3072 | benign | -0.48 | Destabilizing | 0.157 | N | 0.486 | neutral | None | None | None | None | N |
| A/M | 0.2224 | likely_benign | 0.3643 | ambiguous | -0.333 | Destabilizing | 0.909 | D | 0.549 | neutral | None | None | None | None | N |
| A/N | 0.2644 | likely_benign | 0.4064 | ambiguous | -0.433 | Destabilizing | 0.396 | N | 0.536 | neutral | None | None | None | None | N |
| A/P | 0.279 | likely_benign | 0.3522 | ambiguous | -0.451 | Destabilizing | 0.497 | N | 0.501 | neutral | N | 0.504725645 | None | None | N |
| A/Q | 0.4108 | ambiguous | 0.5289 | ambiguous | -0.765 | Destabilizing | 0.567 | D | 0.541 | neutral | None | None | None | None | N |
| A/R | 0.5372 | ambiguous | 0.6696 | pathogenic | -0.249 | Destabilizing | 0.567 | D | 0.54 | neutral | None | None | None | None | N |
| A/S | 0.0837 | likely_benign | 0.0982 | benign | -0.65 | Destabilizing | None | N | 0.173 | neutral | N | 0.412719561 | None | None | N |
| A/T | 0.0775 | likely_benign | 0.1214 | benign | -0.726 | Destabilizing | 0.001 | N | 0.329 | neutral | N | 0.447485495 | None | None | N |
| A/V | 0.1472 | likely_benign | 0.2357 | benign | -0.451 | Destabilizing | 0.124 | N | 0.449 | neutral | N | 0.484190083 | None | None | N |
| A/W | 0.8313 | likely_pathogenic | 0.8904 | pathogenic | -1.223 | Destabilizing | 0.968 | D | 0.699 | prob.neutral | None | None | None | None | N |
| A/Y | 0.5872 | likely_pathogenic | 0.701 | pathogenic | -0.871 | Destabilizing | 0.726 | D | 0.602 | 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.