Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3665 | 11218;11219;11220 | chr2:178756483;178756482;178756481 | chr2:179621210;179621209;179621208 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3494 | 10705;10706;10707 | chr2:178756483;178756482;178756481 | chr2:179621210;179621209;179621208 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/P | None | None | None | None | None | 0.118 | None | gnomAD-4.0.0 | 3.18252E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71615E-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 | 0.2172 | likely_benign | None | None | -0.129 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/C | 0.1664 | likely_benign | None | None | 0.647 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/D | 0.1334 | likely_benign | None | None | -0.034 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/E | 0.1926 | likely_benign | None | None | 0.03 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/F | 0.3515 | ambiguous | None | None | 0.844 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/G | 0.2246 | likely_benign | None | None | -0.469 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/I | 0.3538 | ambiguous | None | None | 0.777 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/K | 0.2021 | likely_benign | None | None | 0.003 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/L | 0.1197 | likely_benign | None | None | 0.777 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/M | 0.4757 | ambiguous | None | None | 0.595 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/N | 0.0886 | likely_benign | None | None | 0.022 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/P | 0.0743 | likely_benign | None | None | 0.5 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/Q | 0.1259 | likely_benign | None | None | 0.2 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/R | 0.1029 | likely_benign | None | None | -0.621 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/S | 0.1554 | likely_benign | None | None | 0.065 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/T | 0.2197 | likely_benign | None | None | 0.23 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/V | 0.2887 | likely_benign | None | None | 0.5 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/W | 0.4107 | ambiguous | None | None | 0.993 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/Y | 0.1093 | likely_benign | None | None | 1.184 | Stabilizing | None | None | None | None | None | None | None | None | I |
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.