Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18840 | 56743;56744;56745 | chr2:178599275;178599274;178599273 | chr2:179464002;179464001;179464000 |
| N2AB | 17199 | 51820;51821;51822 | chr2:178599275;178599274;178599273 | chr2:179464002;179464001;179464000 |
| N2A | 16272 | 49039;49040;49041 | chr2:178599275;178599274;178599273 | chr2:179464002;179464001;179464000 |
| N2B | 9775 | 29548;29549;29550 | chr2:178599275;178599274;178599273 | chr2:179464002;179464001;179464000 |
| Novex-1 | 9900 | 29923;29924;29925 | chr2:178599275;178599274;178599273 | chr2:179464002;179464001;179464000 |
| Novex-2 | 9967 | 30124;30125;30126 | chr2:178599275;178599274;178599273 | chr2:179464002;179464001;179464000 |
| 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/R | rs757205392  |
-0.192 | 0.999 | N | 0.511 | 0.171 | 0.366277470483 | gnomAD-2.1.1 | 4.29E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.31E-06 | 0 |
| K/T | rs757205392 |
-0.248 | 1.0 | N | 0.633 | 0.28 | 0.298056030225 | gnomAD-2.1.1 | 4.29E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.31E-06 | 0 |
| K/T | rs757205392 |
-0.248 | 1.0 | N | 0.633 | 0.28 | 0.298056030225 | gnomAD-4.0.0 | 1.63469E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90335E-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 | 0.2562 | likely_benign | 0.2388 | benign | -0.141 | Destabilizing | 0.999 | D | 0.616 | neutral | None | None | None | None | N |
| K/C | 0.7275 | likely_pathogenic | 0.6861 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| K/D | 0.5393 | ambiguous | 0.4971 | ambiguous | 0.149 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| K/E | 0.1323 | likely_benign | 0.1335 | benign | 0.193 | Stabilizing | 0.999 | D | 0.567 | neutral | N | 0.464953748 | None | None | N |
| K/F | 0.7542 | likely_pathogenic | 0.7256 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| K/G | 0.3559 | ambiguous | 0.3218 | benign | -0.412 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| K/H | 0.4232 | ambiguous | 0.3804 | ambiguous | -0.765 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| K/I | 0.3289 | likely_benign | 0.3089 | benign | 0.513 | Stabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| K/L | 0.3084 | likely_benign | 0.2933 | benign | 0.513 | Stabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| K/M | 0.2225 | likely_benign | 0.2142 | benign | 0.308 | Stabilizing | 1.0 | D | 0.595 | neutral | N | 0.475736878 | None | None | N |
| K/N | 0.4445 | ambiguous | 0.4135 | ambiguous | 0.05 | Stabilizing | 1.0 | D | 0.665 | neutral | N | 0.500911761 | None | None | N |
| K/P | 0.583 | likely_pathogenic | 0.5091 | ambiguous | 0.326 | Stabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| K/Q | 0.139 | likely_benign | 0.1334 | benign | -0.086 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.479421768 | None | None | N |
| K/R | 0.0845 | likely_benign | 0.0819 | benign | -0.246 | Destabilizing | 0.999 | D | 0.511 | neutral | N | 0.480461918 | None | None | N |
| K/S | 0.3523 | ambiguous | 0.3348 | benign | -0.509 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| K/T | 0.1417 | likely_benign | 0.1385 | benign | -0.291 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.452752455 | None | None | N |
| K/V | 0.2599 | likely_benign | 0.2456 | benign | 0.326 | Stabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| K/W | 0.7675 | likely_pathogenic | 0.7349 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| K/Y | 0.6989 | likely_pathogenic | 0.6534 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.601 | 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.