Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30889 | 92890;92891;92892 | chr2:178548961;178548960;178548959 | chr2:179413688;179413687;179413686 |
| N2AB | 29248 | 87967;87968;87969 | chr2:178548961;178548960;178548959 | chr2:179413688;179413687;179413686 |
| N2A | 28321 | 85186;85187;85188 | chr2:178548961;178548960;178548959 | chr2:179413688;179413687;179413686 |
| N2B | 21824 | 65695;65696;65697 | chr2:178548961;178548960;178548959 | chr2:179413688;179413687;179413686 |
| Novex-1 | 21949 | 66070;66071;66072 | chr2:178548961;178548960;178548959 | chr2:179413688;179413687;179413686 |
| Novex-2 | 22016 | 66271;66272;66273 | chr2:178548961;178548960;178548959 | chr2:179413688;179413687;179413686 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs727505280  |
-0.992 | 0.991 | N | 0.807 | 0.453 | 0.408988072059 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
| G/D | rs727505280 |
-0.992 | 0.991 | N | 0.807 | 0.453 | 0.408988072059 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.77555E-04 |
| G/D | rs727505280 |
-0.992 | 0.991 | N | 0.807 | 0.453 | 0.408988072059 | gnomAD-4.0.0 | 5.20514E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.7806E-05 | 1.09784E-05 | 4.80292E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2098 | likely_benign | 0.209 | benign | -0.503 | Destabilizing | 0.984 | D | 0.709 | prob.delet. | N | 0.490863208 | None | None | N |
| G/C | 0.322 | likely_benign | 0.3187 | benign | -0.87 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.543747622 | None | None | N |
| G/D | 0.1815 | likely_benign | 0.1537 | benign | -1.059 | Destabilizing | 0.991 | D | 0.807 | deleterious | N | 0.519660599 | None | None | N |
| G/E | 0.2491 | likely_benign | 0.2271 | benign | -1.221 | Destabilizing | 0.997 | D | 0.871 | deleterious | None | None | None | None | N |
| G/F | 0.6784 | likely_pathogenic | 0.666 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/H | 0.4563 | ambiguous | 0.4364 | ambiguous | -0.817 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| G/I | 0.618 | likely_pathogenic | 0.6073 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/K | 0.5254 | ambiguous | 0.4917 | ambiguous | -1.155 | Destabilizing | 0.993 | D | 0.877 | deleterious | None | None | None | None | N |
| G/L | 0.5185 | ambiguous | 0.5161 | ambiguous | -0.565 | Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| G/M | 0.5403 | ambiguous | 0.5367 | ambiguous | -0.475 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/N | 0.179 | likely_benign | 0.1647 | benign | -0.699 | Destabilizing | 0.379 | N | 0.66 | neutral | None | None | None | None | N |
| G/P | 0.9465 | likely_pathogenic | 0.9453 | pathogenic | -0.51 | Destabilizing | 0.998 | D | 0.891 | deleterious | None | None | None | None | N |
| G/Q | 0.3646 | ambiguous | 0.3455 | ambiguous | -1.036 | Destabilizing | 0.999 | D | 0.886 | deleterious | None | None | None | None | N |
| G/R | 0.4084 | ambiguous | 0.3918 | ambiguous | -0.613 | Destabilizing | 0.996 | D | 0.884 | deleterious | N | 0.504461239 | None | None | N |
| G/S | 0.111 | likely_benign | 0.1078 | benign | -0.803 | Destabilizing | 0.991 | D | 0.785 | deleterious | N | 0.487709656 | None | None | N |
| G/T | 0.2597 | likely_benign | 0.2533 | benign | -0.91 | Destabilizing | 0.997 | D | 0.857 | deleterious | None | None | None | None | N |
| G/V | 0.4558 | ambiguous | 0.4574 | ambiguous | -0.51 | Destabilizing | 0.998 | D | 0.877 | deleterious | N | 0.520363448 | None | None | N |
| G/W | 0.5162 | ambiguous | 0.5333 | ambiguous | -1.33 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Y | 0.5081 | ambiguous | 0.4973 | ambiguous | -1.007 | Destabilizing | 1.0 | D | 0.865 | 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.